KEGG   VARIANT: 9984v1
Entry
9984v1                      Variant                                
Name
THOC1 mutation
Type
Loss of function
Gene
THOC1  THO complex subunit 1 [KO:K12878]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606930
Network
nt06547  Spliceosome
Disease
H00604  Deafness, autosomal dominant
Reference
PMID:32776944
  Authors
Zhang L, Gao Y, Zhang R, Sun F, Cheng C, Qian F, Duan X, Wei G, Sun C, Pang X, Chen P, Chai R, Yang T, Wu H, Liu D
  Title
THOC1 deficiency leads to late-onset nonsyndromic hearing loss through p53-mediated hair cell apoptosis.
  Journal
PLoS Genet 16:e1008953 (2020)
DOI:10.1371/journal.pgen.1008953
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