(Q37661886)

21 August 2017

ClinVar: public archive of relationships among sequence variation and human phenotype (English)

1 reference

21 August 2017

1 reference

Deanna M Church

1 reference

21 August 2017

Donna R Maglott

1 reference

21 August 2017

Melissa J Landrum

1 reference

21 August 2017

Jennifer M Lee

1 reference

21 August 2017

George R Riley

series ordinal

1 reference

21 August 2017

Wonhee Jang

series ordinal

1 reference

21 August 2017

Wendy S Rubinstein

series ordinal

1 reference

21 August 2017

language of work or name

English

0 references

publication date

14 November 2013

1 reference

21 August 2017

Nucleic Acids Research

1 reference

21 August 2017

1 reference

21 August 2017

Database issue

1 reference

21 August 2017

D980-5

1 reference

Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants

21 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3965032

RefSeq: an update on mammalian reference sequences

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3965032

Database resources of the National Center for Biotechnology Information

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3965032

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3965032

DbVar and DGVa: public archives for genomic structural variation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3965032

The NIH genetic testing registry: a new, centralized database of genetic tests to enable access to comprehensive information and improve transparency

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3965032

An integrated map of genetic variation from 1,092 human genomes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3965032

Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3965032

A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®).

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3965032

Evolution of the Sequence Ontology terms and relationships

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3965032

The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3965032

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3965032

Database resources of the National Center for Biotechnology Information

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3965032

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

1 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24234437

12 December 2020

inferred from PubMed ID database lookup

Identifiers

1 reference

https://api.fatcat.wiki/v0/release/ons2vfjgnfdr3hjadgnu6rki7a

30 July 2022

journals/nar/LandrumLRJRCM14

DBLP publication ID

1 reference

DBLP Dataset 2021-01-02

release_ons2vfjgnfdr3hjadgnu6rki7a

28 January 2021

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ons2vfjgnfdr3hjadgnu6rki7a

30 July 2022

https://api.fatcat.wiki/v0/release/ons2vfjgnfdr3hjadgnu6rki7a

1 reference

30 July 2022

https://api.fatcat.wiki/v0/release/ons2vfjgnfdr3hjadgnu6rki7a

PubMed publication ID

1 reference

30 July 2022