Varaico: Literature-Extracted Genetic Variants

Gene:PIGA
Variant:p.G421R
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PIGA

NM_002641.4:p.G421R

Associated Papers

Re-evaluation and re-analysis of 152 research exomes five years after the initial report reveals clinically relevant changes in 18.

Bartolomaeus T et al.

European Journal of Human Genetics : Ejhg, 2023

Cancer of Unknown Primary (CUP): genetic evidence for a novel nosological entity? A case report.

Benvenuti S et al.

Embo Molecular Medicine, 2020

32511869 (PubMed )
Supplement: EMMM-12-e11756-s005.xlsx › Sheet_1

Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.

Reuter MS et al.

Jama Psychiatry, 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."