VARIANT: 3082v2
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Entry
3082v2 Variant
Name
HGF mutation
Type
Loss of function
Gene
HGF
hepatocyte growth factor [KO:
K05460
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
142409
Network
nt06528
Calcium signaling
Disease
H00605
Deafness, autosomal recessive
Reference
PMID:
19576567
Authors
Schultz JM, Khan SN, Ahmed ZM, Riazuddin S, Waryah AM, Chhatre D, Starost MF, Ploplis B, Buckley S, Velasquez D, Kabra M, Lee K, Hassan MJ, Ali G, Ansar M, Ghosh M, Wilcox ER, Ahmad W, Merlino G, Leal SM, Riazuddin S, Friedman TB, Morell RJ
Title
Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39.
Journal
Am J Hum Genet 85:25-39 (2009)
DOI:
10.1016/j.ajhg.2009.06.003
LinkDB
All DBs
DBGET
integrated database retrieval system
