VariantValidator: Accurate validation, mapping, and formatting of sequence variation descriptions.

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VariantValidator: Accurate validation, mapping, and formatting of sequence variation descriptions.

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VariantValidator: Accurate val ...... quence variation descriptions.

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VariantValidator: Accurate val ...... quence variation descriptions.

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VariantValidator: Accurate val ...... quence variation descriptions.

@en

VariantValidator: Accurate val ...... quence variation descriptions.

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VariantValidator: Accurate val ...... quence variation descriptions.

@en

VariantValidator: Accurate val ...... quence variation descriptions.

@nl

P1476

VariantValidator: Accurate val ...... equence variation descriptions

@en

P2093

Anthony J Brookes

http://www.w3.org/2001/XMLSchema#string

Reece K Hart

http://www.w3.org/2001/XMLSchema#string

P2860

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

Ensembl 2017

Genenames.org: the HGNC and VGNC resources in 2017

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

The variant call format and VCFtools

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

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.

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

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

HGVS Recommendations for the Description of Sequence Variants: 2016 Update.

P304

61-68

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1002/HUMU.23348

http://www.w3.org/2001/XMLSchema#string

P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P50

Raymond Dalgleish

Peter J Freeman

Liam J Gretton

P577

2017-10-17T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

28967166

http://www.w3.org/2001/XMLSchema#string

P932

5765404

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