SNPSplicer: systematic analysis of SNP-dependent splicing in genotyped cDNAs (Q40238882)

18 September 2017

SNPSplicer: systematic analysis of SNP-dependent splicing in genotyped cDNAs (English)

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18 September 2017

4

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18 September 2017

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18 September 2017

9

Peter Nürnberg

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18 September 2017

7

Matthias Platzer

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18 September 2017

10

Stefan Schreiber

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18 September 2017

Abdou ElSharawy

1

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18 September 2017

Carl Manaster

2

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18 September 2017

Markus Teuber

3

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18 September 2017

Ruta Kwiatkowski

5

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18 September 2017

Albert Becker

8

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18 September 2017

Jochen Hampe

11

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18 September 2017

1 November 2006

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18 September 2017

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18 September 2017

27

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18 September 2017

11

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18 September 2017

1129-1134

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Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.

18 September 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20377

7 January 2021

Identification of a mutation that perturbs NF1 agene splicing using genomic DNA samples and a minigene assay

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https://api.crossref.org/works/10.1002%2FHUMU.20377

7 January 2021

Listening to silence and understanding nonsense: exonic mutations that affect splicing

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https://api.crossref.org/works/10.1002%2FHUMU.20377

7 January 2021

ESEfinder: A web resource to identify exonic splicing enhancers

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https://api.crossref.org/works/10.1002%2FHUMU.20377

7 January 2021

Categorization and characterization of transcript-confirmed constitutively and alternatively spliced introns and exons from human

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https://api.crossref.org/works/10.1002%2FHUMU.20377

7 January 2021

Detection of regulatory variation in mouse genes.

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https://api.crossref.org/works/10.1002%2FHUMU.20377

7 January 2021

Single nucleotide polymorphism-based validation of exonic splicing enhancers

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https://api.crossref.org/works/10.1002%2FHUMU.20377

7 January 2021

Widespread occurrence of alternative splicing at NAGNAG acceptors contributes to proteome plasticity

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https://api.crossref.org/works/10.1002%2FHUMU.20377

7 January 2021

Biased exon/intron distribution of cryptic and de novo 3' splice sites

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https://api.crossref.org/works/10.1002%2FHUMU.20377

7 January 2021

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

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https://api.crossref.org/works/10.1002%2FHUMU.20377

7 January 2021

Functional studies on the ATM intronic splicing processing element

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https://api.crossref.org/works/10.1002%2FHUMU.20377

7 January 2021

Evidence for the widespread coupling of alternative splicing and nonsense-mediated mRNA decay in humans

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https://api.crossref.org/works/10.1002%2FHUMU.20377

7 January 2021

SGCaller: a program to call and review genotypes measured by sequencing

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https://api.crossref.org/works/10.1002%2FHUMU.20377

7 January 2021

InSNP: a tool for automated detection and visualization of SNPs and InDels

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https://api.crossref.org/works/10.1002%2FHUMU.20377

7 January 2021

Nonsense-mediated mRNA decay

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https://api.crossref.org/works/10.1002%2FHUMU.20377

7 January 2021

Functional analysis of cis-acting elements regulating the alternative splicing of human CFTR exon 9.

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https://api.crossref.org/works/10.1002%2FHUMU.20377

7 January 2021

Splicing Factors Induce Cystic Fibrosis Transmembrane Regulator Exon 9 Skipping through a Nonevolutionary Conserved Intronic Element

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20377

7 January 2021

A new type of mutation causes a splicing defect in ATM.

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https://api.crossref.org/works/10.1002%2FHUMU.20377

7 January 2021

Genomic variants in exons and introns: identifying the splicing spoilers

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https://api.crossref.org/works/10.1002%2FHUMU.20377

7 January 2021

Intrinsic differences between authentic and cryptic 5' splice sites

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https://api.crossref.org/works/10.1002%2FHUMU.20377

7 January 2021

An alternative-exon database and its statistical analysis.

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https://api.crossref.org/works/10.1002%2FHUMU.20377

7 January 2021

ASD: a bioinformatics resource on alternative splicing

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https://api.crossref.org/works/10.1002%2FHUMU.20377

7 January 2021

Human Gene Mutation Database (HGMD): 2003 update.

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https://api.crossref.org/works/10.1002%2FHUMU.20377

7 January 2021

Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences

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https://api.crossref.org/works/10.1002%2FHUMU.20377

7 January 2021

Sarcoidosis is associated with a truncating splice site mutation in BTNL2.

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https://api.crossref.org/works/10.1002%2FHUMU.20377

7 January 2021

Tau exon 10, whose missplicing causes frontotemporal dementia, is regulated by an intricate interplay of cis elements and trans factors

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https://api.crossref.org/works/10.1002%2FHUMU.20377

7 January 2021

Single nucleotide polymorphism characterization by mRNA expression imbalance assessment

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https://api.crossref.org/works/10.1002%2FHUMU.20377

7 January 2021

Single molecule profiling of alternative pre-mRNA splicing

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https://api.crossref.org/works/10.1002%2FHUMU.20377

7 January 2021

An intronic polypyrimidine-rich element downstream of the donor site modulates cystic fibrosis transmembrane conductance regulator exon 9 alternative splicing

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https://api.crossref.org/works/10.1002%2FHUMU.20377

7 January 2021

Identifiers

DOI

10.1002/HUMU.20377

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18 September 2017

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