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A novel homozygous variant of the PIGK gene caused by pat... | ResearchHub
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A novel homozygous variant of the PIGK gene caused by paternal disomy in a patient with neurodevelopmental disorder, cerebellar atrophy, and seizures
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Authors
Kenichiro Sadamitsu
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Kenichiro Sadamitsu
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Tadashi Kaname
7 more
•
Hiromi Hirata
Published
June 20, 2024
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Journal
Journal of Human Genetics
Topics
Biology
Epidemiology
Physiology
Molecular Biology
Neurodevelopmental Disorder
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DOI
10.1038/s10038-024-01264-3
