Article
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.
Human genetics - 1 Jun 2017
Stenson Peter D, Mort Matthew, Ball Edward V, Evans Katy, Hayden Matthew, Heywood Sally, Hussain Michelle, Phillips Andrew D, Cooper David N
Abstract excerpt
The Human Gene Mutation Database (HGMD®) constitutes a comprehensive collection of published germline mutations in nuclear genes that underlie, or are closely associated with human inherited disease. At the time of writing (March 2017), the database contained in excess of 203,000 different gene lesions identified in over 8000 genes manually curated from over 2600 journals. With new mutation entries currently...
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