VARIANT: 5962v1
Help
Entry
5962v1 Variant
Name
RDX mutation
Type
Loss of function
Gene
RDX
radixin [KO:
K05762
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
179410
Network
nt06546
IgSF CAM signaling
Disease
H00605
Deafness, autosomal recessive
Reference
PMID:
17226784
Authors
Khan SY, Ahmed ZM, Shabbir MI, Kitajiri S, Kalsoom S, Tasneem S, Shayiq S, Ramesh A, Srisailpathy S, Khan SN, Smith RJ, Riazuddin S, Friedman TB, Riazuddin S
Title
Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus.
Journal
Hum Mutat 28:417-23 (2007)
DOI:
10.1002/humu.20469
LinkDB
All DBs
DBGET
integrated database retrieval system
