HGVS Recommendations for the Description of Sequence Variants: 2016 Update (Q35941614)

11 August 2017

title

HGVS Recommendations for the Description of Sequence Variants: 2016 Update (English)

1 reference

11 August 2017

2

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31 May 2020

Reece K Hart

4

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31 May 2020

Peter E Taschner

10

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31 May 2020

3

Donna R Maglott

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31 May 2020

author name string

Johan T den Dunnen

1

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31 May 2020

Marc S Greenblatt

5

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31 May 2020

Jean McGowan-Jordan

6

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31 May 2020

Anne-Francoise Roux

7

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31 May 2020

Timothy Smith

8

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31 May 2020

Stylianos E Antonarakis

9

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31 May 2020

publication date

2 March 2016

1 reference

11 August 2017

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31 May 2020

volume

37

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31 May 2020

issue

6

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31 May 2020

page(s)

564-569

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Mutation nomenclature in practice: findings and recommendations from the cystic fibrosis external quality assessment scheme.

31 May 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22981

The changing meanings of "mutation:" A contextualized study of public discourse

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22981

Locus Reference Genomic sequences: an improved basis for describing human DNA variants.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22981

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22981

A Python package for parsing, validating, mapping and formatting sequence variants using HGVS nomenclature

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22981

Nomenclature and Symbolism for Amino Acids and Peptides. Recommendations 1983

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22981

Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22981

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22981

Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22981

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22981

What's in a Name? A Coordinated Approach toward the Correct Use of a Uniform Nomenclature to Improve Patient Reports and Databases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22981

Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22981

Update on nomenclature for human gene mutations. Ad Hoc Committee on Mutation Nomenclature

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22981

inferred from DOI database lookup

7 January 2021

based on heuristic

Communicating "mutation:" Modern meanings and connotations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22981

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.22981

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26931183%20AND%20SRC:MED&resulttype=core&format=json

release_x6xtny7safbn7fz6bxtgkhfmye

31 May 2020

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/x6xtny7safbn7fz6bxtgkhfmye

mapped directly with Wikidata item

24 November 2022

based on heuristic

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