KEGG   VARIANT: 51227v1
Entry
51227v1                      Variant                               
Name
PIGP deficiency
Type
Loss of function
Gene
PIGP  phosphatidylinositol glycan anchor biosynthesis class P [KO:K03861]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 605938
Network
nt06018  GPI-anchor biosynthesis
Disease
H01489  Inherited glycosylphosphatidylinositol deficiencies
Reference
  Authors
Johnstone DL, Nguyen TT, Murakami Y, Kernohan KD, Tetreault M, Goldsmith C, Doja A, Wagner JD, Huang L, Hartley T, St-Denis A, le Deist F, Majewski J, Bulman DE, Kinoshita T, Dyment DA, Boycott KM, Campeau PM
  Title
Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.
  Journal
Hum Mol Genet 26:1706-1715 (2017)
DOI:10.1093/hmg/ddx077
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