Combinatorial effects of double cardiomyopathy mutant alleles in rodent myocytes: a predictive cellular model of myofilament dysregulation in disease (Q28472836)

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English	Combinatorial effects of double cardiomyopathy mutant alleles in rodent myocytes: a predictive cellular model of myofilament dysregulation in disease	scientific article

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Combinatorial effects of double cardiomyopathy mutant alleles in rodent myocytes: a predictive cellular model of myofilament dysregulation in disease (English)

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Jennifer Davis

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Joseph M Metzger

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publication date

10 February 2010

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5

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2

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e9140

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Creative Commons CC0 License

10 February 2010

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April 2022 Public Data File from Crossref

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copyrighted, dedicated to the public domain by copyright holder

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A novel mutant cardiac troponin C disrupts molecular motions critical for calcium binding affinity and cardiomyocyte contractility

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19 March 2017

Dilated cardiomyopathy mutant tropomyosin mice develop cardiac dysfunction with significantly decreased fractional shortening and myofilament calcium sensitivity

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19 March 2017

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19 March 2017

Differential cross-bridge kinetics of FHC myosin mutations R403Q and R453C in heterozygous mouse myocardium

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818843

19 March 2017

Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818843

19 March 2017

Prevalence and severity of "benign" mutations in the beta-myosin heavy chain, cardiac troponin T, and alpha-tropomyosin genes in hypertrophic cardiomyopathy

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818843

19 March 2017

Hypertrophic cardiomyopathy in cardiac myosin binding protein-C knockout mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818843

19 March 2017

Double heterozygosity for mutations in the beta-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818843

19 March 2017

Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818843

19 March 2017

Turnover of cardiac troponin subunits. Kinetic evidence for a precursor pool of troponin-I

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818843

19 March 2017

A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818843

19 March 2017

A polymorphic modifier gene alters the hypertrophic response in a murine model of familial hypertrophic cardiomyopathy

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818843

19 March 2017

Regulation of contraction in striated muscle

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818843

19 March 2017

Designing heart performance by gene transfer.

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818843

29 September 2017

Impact of multiple gene mutations in determining the severity of cardiomyopathy and heart failure.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818843

29 September 2017

Allele and species dependent contractile defects by restrictive and hypertrophic cardiomyopathy-linked troponin I mutants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818843

29 September 2017

Familial hypertrophic cardiomyopathy associated with cardiac beta-myosin heavy chain and troponin I mutations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818843

29 September 2017

Genetic engineering and therapy for inherited and acquired cardiomyopathies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818843

29 September 2017

Sarcomeric proteins and familial hypertrophic cardiomyopathy: linking mutations in structural proteins to complex cardiovascular phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818843

29 September 2017

Dynamics of the C-terminal region of TnI in the troponin complex in solution.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818843

29 September 2017

Cellular and molecular aspects of familial hypertrophic cardiomyopathy caused by mutations in the cardiac troponin I gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818843

29 September 2017

Molecular and cellular aspects of troponin cardiomyopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818843

29 September 2017

Utility of genetic screening in hypertrophic cardiomyopathy: prevalence and significance of novel and double (homozygous and heterozygous) beta-myosin mutations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818843

29 September 2017

Molecular mechanisms of inherited cardiomyopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818843

29 September 2017

Myofilament calcium sensitivity and cardiac disease: insights from troponin I isoforms and mutants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818843

29 September 2017

Modifier genes for hypertrophic cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818843

29 September 2017

The L-type calcium channel inhibitor diltiazem prevents cardiomyopathy in a mouse model

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818843

29 September 2017

Homozygous mutation in cardiac troponin T: implications for hypertrophic cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818843

29 September 2017

Thin filament protein dynamics in fully differentiated adult cardiac myocytes: toward a model of sarcomere maintenance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818843

29 September 2017

Stability of the contractile assembly and Ca2+-activated tension in adenovirus infected adult cardiac myocytes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818843

29 September 2017

Slow skeletal troponin I gene transfer, expression, and myofilament incorporation enhances adult cardiac myocyte contractile function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818843

29 September 2017

Thin filament-mediated regulation of cardiac contraction

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818843

29 September 2017

Altered interactions among thin filament proteins modulate cardiac function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818843

29 September 2017

Myosin binding-induced cooperative activation of the thin filament in cardiac myocytes and skeletal muscle fibers

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818843

29 September 2017

Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study. Coronary Artery Risk Development in (Young) Adults

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818843

29 September 2017

The troponin complex and regulation of muscle contraction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818843

29 September 2017

Effects of partial extraction of troponin complex upon the tension-pCa relation in rabbit skeletal muscle. Further evidence that tension development involves cooperative effects within the thin filament

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818843

29 September 2017

Ca2+ regulation of mechanical properties of striated muscle. Mechanistic studies using extraction and replacement of regulatory proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818843

29 September 2017

Correlation between the inhibition of the acto-heavy meromyosin ATPase and the binding of tropomyosin to F-actin. Effects of Mg2+ion, potassium chloride troponin I, and troponin C

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818843

29 September 2017

Challenging current paradigms related to cardiomyopathies. Are changes in the Ca2+ sensitivity of myofilaments containing cardiac troponin C mutations (G159D and L29Q) good predictors of the phenotypic outcomes?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818843

2 June 2018

Thin filament disinhibition by restrictive cardiomyopathy mutant R193H troponin I induces Ca2+-independent mechanical tone and acute myocyte remodeling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818843

2 June 2018

Dilated cardiomyopathy in homozygous myosin-binding protein-C mutant mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818843

2 June 2018

The molecular biology and pathophysiology of hypertrophic cardiomyopathy due to mutations in the beta myosin heavy chains and the essential and regulatory light chains.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818843

2 June 2018

Adenovirus-mediated myofilament gene transfer into adult cardiac myocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818843

2 June 2018

Influence of a strong-binding myosin analogue on calcium-sensitive mechanical properties of skinned skeletal muscle fibers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818843

2 June 2018

Calcium-independent negative inotropy by beta-myosin heavy chain gene transfer in cardiac myocytes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818843

27 November 2018

Functional effects of the DCM mutant Gly159Asp Troponin C in skinned muscle fibres

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818843

27 November 2018

Histidine button engineered into cardiac troponin I protects the ischemic and failing heart.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818843

27 November 2018

Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818843

27 November 2018

Hypertrophic cardiomyopathy linked to homozygosity for a new mutation in the myosin-binding protein C gene (A627V) suggests a dosage effect.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818843

27 November 2018

Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818843

27 November 2018

Genetic manipulation of calcium-handling proteins in cardiac myocytes. I. Experimental studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818843

27 November 2018

Parvalbumin corrects slowed relaxation in adult cardiac myocytes expressing hypertrophic cardiomyopathy-linked alpha-tropomyosin mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818843

27 November 2018

Sarcomere thin filament regulatory isoforms. Evidence of a dominant effect of slow skeletal troponin I on cardiac contraction.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818843

27 November 2018

Cardiac dysfunction in hypertrophic cardiomyopathy mutant tropomyosin mice is transgene-dependent, hypertrophy-independent, and improved by beta-blockade

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818843

27 November 2018

Homozygotes for a R869G Mutation in the β -myosin Heavy Chain Gene have a Severe Form of Familial Hypertrophic Cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818843

27 November 2018

Co-operative activation of skeletal muscle thin filaments by rigor crossbridges. The effect of troponin C extraction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2818843

27 November 2018

Molecular and phenotypic effects of heterozygous, homozygous, and compound heterozygote myosin heavy-chain mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/20161772

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Reciprocal coupling between troponin C and myosin crossbridge attachment

1 reference

https://pubmed.ncbi.nlm.nih.gov/20161772

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular insights from a novel cardiac troponin I mouse model of familial hypertrophic cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/20161772

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An alpha-cardiac myosin heavy chain gene mutation impairs contraction and relaxation function of cardiac myocytes

1 reference

https://pubmed.ncbi.nlm.nih.gov/20161772

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The troponin C G159D mutation blunts myofilament desensitization induced by troponin I Ser23/24 phosphorylation

1 reference

https://pubmed.ncbi.nlm.nih.gov/20161772

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chimera analysis of troponin I domains that influence Ca(2+)-activated myofilament tension in adult cardiac myocytes

1 reference

https://pubmed.ncbi.nlm.nih.gov/20161772

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Effects of cardiomyopathic mutations on the biochemical and biophysical properties of the human alpha-tropomyosin

1 reference

https://pubmed.ncbi.nlm.nih.gov/20161772

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Co-operative interactions between troponin-tropomyosin units extend the length of the thin filament in skeletal muscle

1 reference

https://pubmed.ncbi.nlm.nih.gov/20161772

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hypertrophic cardiomyopathy: two homozygous cases with "typical" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/20161772

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hypertrophic cardiomyopathy: from "heart tumour" to a complex molecular genetic disorder

1 reference

https://pubmed.ncbi.nlm.nih.gov/20161772

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Contemporary evaluation and management of hypertrophic cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/20161772

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Direct, convergent hypersensitivity of calcium-activated force generation produced by hypertrophic cardiomyopathy mutant alpha-tropomyosins in adult cardiac myocytes

1 reference

https://pubmed.ncbi.nlm.nih.gov/20161772

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phenotypic variation of familial hypertrophic cardiomyopathy caused by the Phe(110)-->Ile mutation in cardiac troponin T

1 reference

https://pubmed.ncbi.nlm.nih.gov/20161772

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cooperative interactions between troponin molecules bound to the cardiac thin filament

1 reference

https://pubmed.ncbi.nlm.nih.gov/20161772

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Severe Heart Failure and Early Mortality in a Double-Mutation Mouse Model of Familial Hypertrophic Cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/20161772

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The role of electrostatics in the interaction of the inhibitory region of troponin I with troponin C

1 reference

https://pubmed.ncbi.nlm.nih.gov/20161772

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Divergent abnormal muscle relaxation by hypertrophic cardiomyopathy and nemaline myopathy mutant tropomyosins

1 reference

https://pubmed.ncbi.nlm.nih.gov/20161772

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Abnormal contractile function in transgenic mice expressing a familial hypertrophic cardiomyopathy-linked troponin T (I79N) mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/20161772

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1371/JOURNAL.PONE.0009140

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2010PLoSO...5.9140D

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