Sequence Variant Descriptions: HGVS Nomenclature and Mutalyzer
Author:
Affiliation:
1. Clinical Genetics & Human Genetics, Leiden University Medical Center, on behalf of the HGVS/HVP/HUGO Sequence Variant Description Working Group (SVD‐WG) Leiden The Netherlands
Publisher
Wiley
Subject
General Medicine
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/cphg.2
Reference28 articles.
1. Update on nomenclature for human gene mutations
2. Recommendations for a nomenclature system for human gene mutations
3. A suggested nomenclature for designating mutations
4. Locus Reference Genomic sequences: an improved basis for describing human DNA variants
5. Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
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