KEGG   VARIANT: 94005v1
Entry
94005v1                      Variant                               
Name
PIGS deficiency
Type
Loss of function
Gene
PIGS  phosphatidylinositol glycan anchor biosynthesis class S [KO:K05291]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 610271
Network
nt06018  GPI-anchor biosynthesis
Disease
H01489  Inherited glycosylphosphatidylinositol deficiencies
Reference
  Authors
Nguyen TTM, Murakami Y, Wigby KM, Baratang NV, Rousseau J, St-Denis A, Rosenfeld JA, Laniewski SC, Jones J, Iglesias AD, Jones MC, Masser-Frye D, Scheuerle AE, Perry DL, Taft RJ, Le Deist F, Thompson M, Kinoshita T, Campeau PM
  Title
Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.
  Journal
Am J Hum Genet 103:602-611 (2018)
DOI:10.1016/j.ajhg.2018.08.014
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