Varaico: Literature-Extracted Genetic Variants

Gene:PIGL
Variant:p.R234H
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PIGL

NM_004278.4:p.R234H

Associated Papers

Whole-exome sequencing for identification of specific gene mutations in an Indian cohort of triple-negative breast cancer patients.

Preeti P et al.

Discover Oncology, 2025

41324770 (PubMed )
Supplement: 12672_2025_3921_MOESM2_ESM.xlsx › Sheet1

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

Early infancy-onset stimulation-induced myoclonic seizures in three siblings with inherited glycosylphosphatidylinositol (GPI) anchor deficiency.

Mogami Y et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2018

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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."