KEGG   VARIANT: 22953v1
Entry
22953v1                      Variant                               
Name
P2RX2 mutation
Type
Loss of function
Gene
P2RX2  P2X purinoceptor 2 isoform A [KO:K05216]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600844
Network
nt06528  Calcium signaling
nt06544  Neuroactive ligand signaling
Disease
H00604  Deafness, autosomal dominant
Reference
  Authors
Yan D, Zhu Y, Walsh T, Xie D, Yuan H, Sirmaci A, Fujikawa T, Wong AC, Loh TL, Du L, Grati M, Vlajkovic SM, Blanton S, Ryan AF, Chen ZY, Thorne PR, Kachar B, Tekin M, Zhao HB, Housley GD, King MC, Liu XZ
  Title
Mutation of the ATP-gated P2X(2) receptor leads to progressive hearing loss and increased susceptibility to noise.
  Journal
Proc Natl Acad Sci U S A 110:2228-33 (2013)
DOI:10.1073/pnas.1222285110
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