KEGG   VARIANT: 23533v1
Entry
23533v1                      Variant                               
Name
PIK3R5 mutation
Type
Loss of function
Gene
PIK3R5  phosphoinositide-3-kinase regulatory subunit 5 [KO:K21290]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 611317
Network
nt06530  PI3K signaling
Disease
H00848  Ataxia with ocular apraxia
Reference
PMID:22065524
  Authors
Al Tassan N, Khalil D, Shinwari J, Al Sharif L, Bavi P, Abduljaleel Z, Abu Dhaim N, Magrashi A, Bobis S, Ahmed H, Alahmed S, Bohlega S
  Title
A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia.
  Journal
Hum Mutat 33:351-4 (2012)
DOI:10.1002/humu.21650
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