Mai Nguyen TT et al.Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.Am J Hum Genet. 2020;106(4):484-495. doi: https://doi.org/10.1016/j.ajhg.2020.03.001. PMID: 32220290.
PIGK