Associated Papers
A novel homozygous variant of the PIGK gene caused by paternal disomy in a patient with neurodevelopmental disorder, cerebellar atrophy, and seizures.
Sadamitsu K et al.
Journal of Human Genetics, 2024
Structure and Function of the Glycosylphosphatidylinositol Transamidase, a Transmembrane Complex Catalyzing GPI Anchoring of Proteins.
Li D
Sub-cellular Biochemistry, 2024
Structure of human glycosylphosphatidylinositol transamidase.
Zhang H et al.
Nature Structural & Molecular Biology, 2022
Loss of PIGK function causes severe infantile encephalopathy and extensive neuronal apoptosis.
Chen X et al.
Human Genetics, 2021
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