ClinVar: improving access to variant interpretations and supporting evidence (Q47104237)

http://europepmc.org/abstract/PMC/5753237

8 January 2018

title

ClinVar: improving access to variant interpretations and supporting evidence (English)

1 reference

http://europepmc.org/abstract/PMC/5753237

8 January 2018

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29165669%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Donna R Maglott

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29165669%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Melissa J Landrum

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29165669%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Jennifer M Lee

1 reference

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10 June 2020

Mark Benson

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29165669%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Garth R Brown

1 reference

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10 June 2020

Chen Chao

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29165669%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Shanmuga Chitipiralla

1 reference

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10 June 2020

Baoshan Gu

1 reference

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10 June 2020

Jennifer Hart

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29165669%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Douglas Hoffman

1 reference

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10 June 2020

Wonhee Jang

1 reference

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10 June 2020

Karen Karapetyan

1 reference

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10 June 2020

Kenneth Katz

1 reference

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10 June 2020

Chunlei Liu

1 reference

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10 June 2020

Zenith Maddipatla

1 reference

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10 June 2020

Adriana Malheiro

1 reference

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10 June 2020

Kurt McDaniel

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29165669%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Michael Ovetsky

1 reference

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10 June 2020

George Zhou

1 reference

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10 June 2020

J Bradley Holmes

1 reference

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10 June 2020

Brandi L Kattman

1 reference

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10 June 2020

language of work or name

English

0 references

publication date

20 November 2017

1 reference

http://europepmc.org/abstract/PMC/5753237

8 January 2018

published in

Nucleic Acids Research

1 reference

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10 June 2020

volume

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10 June 2020

issue

1 reference

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10 June 2020

page(s)

D1062-D1067

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29165669%20AND%20SRC:MED&resulttype=core&format=json

The Human Phenotype Ontology in 2017

10 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5753237

Genenames.org: the HGNC and VGNC resources in 2017

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5753237

Analysis of protein-coding genetic variation in 60,706 humans

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5753237

ClinVar: public archive of interpretations of clinically relevant variants

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5753237

A global reference for human genetic variation

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5753237

OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5753237

Database resources of the National Center for Biotechnology Information

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5753237

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

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5753237

The variant call format and VCFtools

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5753237

Evolution of the Sequence Ontology terms and relationships

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5753237

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

23 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5753237

Database resources of the National Center for Biotechnology Information

23 May 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FNAR%2FGKX1153

21 January 2018

Identifiers

DOI

10.1093/NAR/GKX1153

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29165669%20AND%20SRC:MED&resulttype=core&format=json

journals/nar/LandrumLBBCCGHH18

10 June 2020

DBLP publication ID

1 reference

DBLP Dataset 2021-01-02

28 January 2021

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29165669%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

PubMed publication ID

29165669

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29165669%20AND%20SRC:MED&resulttype=core&format=json