Varaico: Literature-Extracted Genetic Variants

Gene:PIGA
Variant:p.H128R
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PIGA

NM_002641.4:p.H128R

Associated Papers

Ultradeep Sequencing Analysis of Paroxysmal Nocturnal Hemoglobinuria Clones Detected by Flow Cytometry: PIG Mutation in Small PNH Clones.

Jeong D et al.

American Journal of Clinical Pathology, 2021

Identification of acquired PIGA mutations and additional variants by next-generation sequencing in paroxysmal nocturnal hemoglobinuria.

Li J et al.

International Journal of Laboratory Hematology, 2020

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

Deep sequencing reveals stepwise mutation acquisition in paroxysmal nocturnal hemoglobinuria.

Shen W et al.

The Journal of Clinical Investigation, 2014

Clinical and molecular aspects of 23 patients affected by paroxysmal nocturnal hemoglobinuria.

Boschetti C et al.

American Journal of Hematology, 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."