Varaico: Literature-Extracted Genetic Variants

Gene:PIGA
Variant:p.A135V
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PIGA

NM_002641.4:p.A135V

Associated Papers

Identification of CNTN2 as a genetic modifier of PIGA-CDG through pedigree analysis of a family with incomplete penetrance and functional testing in Drosophila.

Thorpe HJ et al.

Biorxiv : the Preprint Server for Biology, 2024

Cannabidiol Add-On in Glycosylphosphatidylinositol-Related Drug-Resistant Epilepsy.

Riva A et al.

Cannabis and Cannabinoid Research, 2024

Lessons learned from 40 novel PIGA patients and a review of the literature.

Bayat A et al.

Epilepsia, 2020

The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures.

Burgess R et al.

Annals of Neurology, 2019

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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."