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gpi-anchored proteins mcahs3 pigt epilepsy global developmental delay hypotonia multi-malformations
CC BY
https://pubmed.ncbi.nlm.nih.gov/29868109/
Case Reports
PMC5951959
29868109
Homozygous PIGT Mutation Lead to Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3
2018