Associated Papers
Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.
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Epilepsia, 2025
40183601 (PubMed )
Supplement: EPI-66-2966-s001.xlsx › supplementary_table9_v2.01
PIGG variant pathogenicity assessment reveals characteristic features within 19 families.
Tremblay-Laganière C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
The Glycosylphosphatidylinositol biosynthesis pathway in human diseases.
Wu T et al.
Orphanet Journal of Rare Diseases, 2020
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Supplement: 13023_2020_1401_MOESM1_ESM.xlsx › Sheet1
Identification and In Silico Characterization of a Novel Point Mutation within the Phosphatidylinositol Glycan Anchor Biosynthesis Class G Gene in an Iranian Family with Intellectual Disability.
Parsamanesh N et al.
Journal of Molecular Neuroscience : Mn, 2019
Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function.
Zhao JJ et al.
Human Mutation, 2017
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