Associated Papers
PIGK defects induce apoptosis in Purkinje cells and acceleration of neuroectodermal differentiation.
Chen S et al.
Cell Death & Disease, 2024
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 of human glycosylphosphatidylinositol transamidase.
Zhang H et al.
Nature Structural & Molecular Biology, 2022
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S6
Loss of PIGK function causes severe infantile encephalopathy and extensive neuronal apoptosis.
Chen X et al.
Human Genetics, 2021
Select a paper to view details