KEGG   VARIANT: 246213v1
Entry
246213v1                      Variant                              
Name
SLC17A8 mutation
Type
Loss of function
Gene
SLC17A8  solute carrier family 17 member 8 [KO:K12302]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607557
Network
nt06544  Neuroactive ligand signaling
Disease
H00604  Deafness, autosomal dominant
Reference
PMID:26797701
  Authors
Ryu N, Sagong B, Park HJ, Kim MA, Lee KY, Choi JY, Kim UK
  Title
Screening of the SLC17A8 gene as a causative factor for autosomal dominant non-syndromic hearing loss in Koreans.
  Journal
BMC Med Genet 17:6 (2016)
DOI:10.1186/s12881-016-0269-3
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