Varaico: Literature-Extracted Genetic Variants

Gene:PIGA
Variant:p.K396_V397Splc
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PIGA

NM_002641.4:p.K396_V397Splc

Associated Papers

Next-generation sequencing reveals the presence of DDX41 mutations in acute lymphoblastic leukemia and aplastic anemia.

Zhang Y et al.

Ejhaem, 2021

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

Mutation analysis of the PIG-A gene in Korean patients with paroxysmal nocturnal haemoglobinuria.

Yoon JH et al.

Journal of Clinical Pathology, 2002

Recurrent PIG-A mutation (IVS5+1G-->A) in a paediatric case of paroxysmal nocturnal haemoglobinuria: detection by the protein truncation test.

Maugard C et al.

British Journal of Haematology, 1997

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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."