URL: http://www.hgmd.org
Proper Citation: Human Gene Mutation Database (RRID:SCR_001621)
Description: Curated database of known (published) gene lesions responsible for human inherited disease.
Abbreviations: HGMD
Synonyms: The Human Gene Mutation Database, The Human Gene Mutation Database at the Institute of Medical Genetics in Cardiff
Resource Type: data or information resource, database
Defining Citation: PMID:22948725, PMID:20368137, PMID:20038494, PMID:19348700, PMID:18428754, PMID:18245393, PMID:12754702, PMID:10612821, PMID:9399854, PMID:9066272, PMID:8882888
Keywords: gene, disease, gene lesion, mutation, deletion, insertion, duplication, rearrangement, nuclear gene, functional polymorphism, bio.tools
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