Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference13 articles.
1. Recommendations for a nomenclature system for human gene mutations
2. Time for a Unified System of Mutation Description and Reporting: A Review of Locus-Specific Mutation Databases
3. Recommendations of the 2006 Human Variome Project meeting
4. Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
5. Standardizing mutation nomenclature: Why bother?
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