KEGG   VARIANT: 26121v1
Entry
26121v1                      Variant                               
Name
PRPF31 mutation
Type
Loss of function
Gene
PRPF31  pre-mRNA processing factor 31 [KO:K12844]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606419
Network
nt06547  Spliceosome
Disease
H00527  Retinitis pigmentosa
Reference
  Authors
Vithana EN, Abu-Safieh L, Allen MJ, Carey A, Papaioannou M, Chakarova C, Al-Maghtheh M, Ebenezer ND, Willis C, Moore AT, Bird AC, Hunt DM, Bhattacharya SS
  Title
A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11).
  Journal
Mol Cell 8:375-81 (2001)
DOI:10.1016/s1097-2765(01)00305-7
LinkDB

DBGET integrated database retrieval system