Varaico: Literature-Extracted Genetic Variants

Gene:PGAP2
Variant:p.H217Q
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PGAP2

NM_014489.4:p.H217Q

Associated Papers

Homozygous PGAP2 Mutation Causes Hyperphosphatasia with Mental Retardation Syndrome-3: Genetic and Clinical Evaluation of the Ultra-Rare Inherited Glycosylphosphatidylinositol Biosynthesis Defect.

Küçükçongar Yavaş A et al.

Molecular Syndromology, 2025

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