KEGG   VARIANT: 24148v1
Entry
24148v1                      Variant                               
Name
PRPF6 mutation
Type
Loss of function
Gene
PRPF6  pre-mRNA processing factor 6 [KO:K12855]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 613979
Network
nt06547  Spliceosome
Disease
H00527  Retinitis pigmentosa
Reference
PMID:21549338
  Authors
Tanackovic G, Ransijn A, Ayuso C, Harper S, Berson EL, Rivolta C
  Title
A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa.
  Journal
Am J Hum Genet 88:643-9 (2011)
DOI:10.1016/j.ajhg.2011.04.008
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