Varaico: Literature-Extracted Genetic Variants

Gene:PIGC
Variant:p.L212P
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PIGC

NM_153747.2:p.L212P

Associated Papers

PIGC-related encephalopathy: Lessons learned from 18 new probands.

Bayat A et al.

European Journal of Human Genetics : Ejhg, 2025

Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts.

Zeevi DA et al.

Molecular Genetics & Genomic Medicine, 2021

34288589 (PubMed )
Supplement: MGG3-9-e1756-s001.xlsx › Table_S1

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

Mutations in the phosphatidylinositol glycan C (PIGC) gene are associated with epilepsy and intellectual disability.

Edvardson S et al.

Journal of Medical Genetics, 2017

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."