Associated Papers
Inherited glycophosphatidylinositol deficiency variant database and analysis of pathogenic variants.
Baratang NV et al.
Molecular Genetics & Genomic Medicine, 2019
PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels.
Nakamura K et al.
Epilepsia, 2014
Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.
Hansen L et al.
American Journal of Human Genetics, 2013
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