KEGG   VARIANT: 9128v1
Entry
9128v1                      Variant                                
Name
PRPF4 mutation
Type
Loss of function
Gene
PRPF4  pre-mRNA splicing tri-snRNP complex factor PRPF4 [KO:K12662]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607795
Network
nt06547  Spliceosome
Disease
H00527  Retinitis pigmentosa
Reference
PMID:24419317
  Authors
Chen X, Liu Y, Sheng X, Tam PO, Zhao K, Chen X, Rong W, Liu Y, Liu X, Pan X, Chen LJ, Zhao Q, Vollrath D, Pang CP, Zhao C
  Title
PRPF4 mutations cause autosomal dominant retinitis pigmentosa.
  Journal
Hum Mol Genet 23:2926-39 (2014)
DOI:10.1093/hmg/ddu005
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