Associated Papers
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
32466763 (PubMed )
Supplement: 13023_2020_1401_MOESM1_ESM.xlsx › Sheet1
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
31164752 (PubMed )
Supplement: 41436_2019_566_MOESM2_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
The Molecular Genetics of Autosomal Recessive Nonsyndromic Intellectual Disability: a Mutational Continuum and Future Recommendations.
Khan MA et al.
Annals of Human Genetics, 2016
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.
Makrythanasis P et al.
American Journal of Human Genetics, 2016
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