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URL: https://www.hgmd.cf.ac.uk/ac/introduction.php?lang=english
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
Related Condition: Inherited disease
Availability: Free, Freely available
Resource Name: Human Gene Mutation Database
Resource ID: SCR_001621
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Source: SciCrunch Registry (RRID:SCR_005400)
Description: Interactive portal for finding and submitting biomedical resources. Resources within SciCrunch have assigned RRIDs which are used to cite resources in scientific manuscripts. SciCrunch Registry, formerly NIF Registry, provides resources catalog. Allows to add new resources. Allows edit existing resources after registration. Curators are tasked with identifying and registering resources, examining data, writing configuration files to index and display data and keeping contents current.
URL: https://rrid.site/rin/sources/SCR_005400
