KEGG   VARIANT: 222662v1
Entry
222662v1                      Variant                              
Name
LHFPL5 mutation
Type
Loss of function
Gene
LHFPL5  LHFPL tetraspan subfamily member 5 protein [KO:K23893]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 609427
Network
nt06549  Cadherin signaling
Disease
H00605  Deafness, autosomal recessive
Reference
PMID:16459341
  Authors
Shabbir MI, Ahmed ZM, Khan SY, Riazuddin S, Waryah AM, Khan SN, Camps RD, Ghosh M, Kabra M, Belyantseva IA, Friedman TB, Riazuddin S
  Title
Mutations of human TMHS cause recessively inherited non-syndromic hearing loss.
  Journal
J Med Genet 43:634-40 (2006)
DOI:10.1136/jmg.2005.039834
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