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Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy

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Description scientific article published on 26 March 2020
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author: Philippe M. Campeau  Ange-Line Bruel 

Publication date March 26, 2020
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