KEGG   VARIANT: 9129v1
Entry
9129v1                      Variant                                
Name
PRPF3 mutation
Type
Loss of function
Gene
PRPF3  pre-mRNA processing factor 3 [KO:K12843]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607301
Network
nt06547  Spliceosome
Disease
H00527  Retinitis pigmentosa
Reference
PMID:17932117
  Authors
Gonzalez-Santos JM, Cao H, Duan RC, Hu J
  Title
Mutation in the splicing factor Hprp3p linked to retinitis pigmentosa impairs interactions within the U4/U6 snRNP complex.
  Journal
Hum Mol Genet 17:225-39 (2008)
DOI:10.1093/hmg/ddm300
LinkDB

DBGET integrated database retrieval system