Varaico: Literature-Extracted Genetic Variants

Gene:PIGA
Variant:p.G48D
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PIGA

NM_002641.4:p.G48D

Associated Papers

Minor GPI(-) granulocyte populations in aplastic anemia and healthy individuals derived from a few PIGA-mutated hematopoietic stem progenitor cells.

Mizumaki H et al.

Blood Cancer Journal, 2023

The impact of missense mutation in PIGA associated to paroxysmal nocturnal hemoglobinuria and multiple congenital anomalies-hypotonia-seizures syndrome 2: A computational study.

Agrahari AK et al.

Heliyon, 2019

MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.

Fukasawa Y et al.

Molecular & Cellular Proteomics : Mcp, 2015

25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9B

Functional characterization of telomerase RNA variants found in patients with hematologic disorders.

Ly H et al.

Blood, 2005

Dyskeratosis congenita: molecular insights into telomerase function, ageing and cancer.

Marrone A et al.

Expert Reviews in Molecular Medicine, 2004

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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."