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The Human Gene Mutation Database (HGMD) and its exploitation in the study of mutational mechanisms.

Current protocols in bioinformatics - 1 Jan 2006

Cooper David N, Stenson Peter D, Chuzhanova Nadia A

Abstract excerpt

The Human Gene Mutation Database (HGMD) constitutes a comprehensive core collection of data on germ-line mutations in nuclear genes underlying or associated with human inherited disease (http://www.hgmd.org). Data cataloged include single base-pair substitutions in coding, regulatory, and splicing-relevant regions, microdeletions and microinsertions, indels, and triplet repeat expansions, as well as gross gene...

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PMID: 18428754
DOI: 10.1002/0471250953.bi0113s12

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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