Human Gene Mutation Database
GPTKB entity
Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:database
|
| gptkbp:abbreviation |
gptkb:HGMD
|
| gptkbp:access |
subscription
academic free version |
| gptkbp:citation |
Stenson PD, Ball EV, Mort M, Phillips AD, Shiel JA, Thomas NS, Abeysinghe S, Krawczak M, Cooper DN. Human Gene Mutation Database (HGMD): 2003 update. Hum Mutat. 2003 Jun;21(6):577-81.
|
| gptkbp:contains |
germline mutations
disease-associated polymorphisms |
| gptkbp:country |
gptkb:United_Kingdom
|
| gptkbp:focus |
disease-causing mutations
human gene mutations |
| gptkbp:foundedBy |
gptkb:David_N._Cooper
|
| gptkbp:foundedIn |
1996
|
| https://www.w3.org/2000/01/rdf-schema#label |
Human Gene Mutation Database
|
| gptkbp:maintainedBy |
gptkb:Cardiff_University
|
| gptkbp:usedFor |
medical genetics research
clinical diagnostics |
| gptkbp:website |
https://www.hgmd.cf.ac.uk/
|
| gptkbp:bfsParent |
gptkb:NCBI_Gene
|
| gptkbp:bfsLayer |
6
|