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
Loss of PIGK function causes severe infantile encephalopathy and extensive neuronal apoptosis.
Chen X et al.
Human Genetics, 2021
Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders.
Tran Mau-Them F et al.
Human Genetics, 2020
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