KEGG   VARIANT: 128869v1
Entry
128869v1                      Variant                              
Name
PIGU deficiency
Gene
PIGU  phosphatidylinositol glycan anchor biosynthesis class U [KO:K05293]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 608528
Network
nt06018  GPI-anchor biosynthesis
Disease
H01489  Inherited glycosylphosphatidylinositol deficiencies
Reference
PMID:31353022
  Authors
Knaus A, Kortum F, Kleefstra T, Stray-Pedersen A, Dukic D, Murakami Y, Gerstner T, van Bokhoven H, Iqbal Z, Horn D, Kinoshita T, Hempel M, Krawitz PM
  Title
Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies.
  Journal
Am J Hum Genet 105:395-402 (2019)
DOI:10.1016/j.ajhg.2019.06.009
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