PhenomeGene — Human Disease Gene Website SeriesPIGU

Publications

Knaus A et al.Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies. Am J Hum Genet. 2019;105(2):395-402. PMID: 31353022.