FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide (Q35537110)

8 August 2017

title

FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide (English)

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8 August 2017

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8

Charles R Scriver

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Polynikis Kaimakis

object named as

Polynikis Kaimakis

2

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George P Patrinos

9

object named as

George P Patrinos

1 reference

8 August 2017

Sjozef van Baal

1

1 reference

8 August 2017

Manyphong Phommarinh

3

1 reference

8 August 2017

Daphne Koumbi

4

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8 August 2017

Harry Cuppens

5

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8 August 2017

Francesca Riccardino

6

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8 August 2017

Milan Macek

7

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8 August 2017

language of work or name

English

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publication date

28 November 2006

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8 August 2017

published in

Nucleic Acids Research

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8 August 2017

volume

35

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8 August 2017

issue

Database issue

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8 August 2017

page(s)

D690-5

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Population history and its impact on medical genetics in Quebec

8 August 2017

cites work

1 reference

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DNA, diseases and databases: disastrously deficient

27 July 2018

1 reference

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Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1747180

PAHdb 2003: what a locus-specific knowledgebase can do.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1747180

Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening

27 July 2018

1 reference

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Time for a unified system of mutation description and reporting: a review of locus-specific mutation databases

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1747180

GeneTests-GeneClinics: genetic testing information for a growing audience

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1747180

Human genetics: lessons from Quebec populations

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1747180

PAHdb: a locus-specific knowledgebase.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1747180

Guidelines and recommendations for content, structure, and deployment of mutation databases

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1747180

HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1747180

The cypriot and Iranian National Mutation Frequency Databases.

26 September 2018

1 reference

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Hellenic National Mutation database: a prototype database for mutations leading to inherited disorders in the Hellenic population.

26 September 2018

1 reference

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Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders

26 September 2018

1 reference

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Recording human globin gene variation.

26 September 2018

1 reference

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The challenge of documenting mutation across the genome: the human genome variation society approach

26 September 2018

1 reference

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Human Gene Mutation Database (HGMD): 2003 update

26 September 2018

1 reference

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National and ethnic mutation databases: recording populations' genography

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1747180

HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17135191

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/NAR/GKL934

1 reference

journals/nar/BaalKPKCRMSP07

8 August 2017

DBLP publication ID

1 reference

DBLP Dataset 2021-01-02

28 January 2021

1 reference

8 August 2017

1 reference