Varaico: Literature-Extracted Genetic Variants

Gene:PIGA
Variant:p.E338*
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PIGA

NM_002641.4:p.E338*

Associated Papers

MUC4 mutations promote a thrombotic phenotype in patients with paroxysmal nocturnal haemoglobinuria by increasing the deposition of terminal complement.

Chen Y et al.

Clinical and Translational Medicine, 2026

41492103 (PubMed )
Supplement: CTM2-16-e70567-s002.xlsx › PIGA_SNV_InDel

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

Gene mutations associated with thrombosis detected by whole-exome sequencing in paroxysmal nocturnal hemoglobinuria.

Li L et al.

International Journal of Laboratory Hematology, 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."