Varaico: Literature-Extracted Genetic Variants

Gene:PIGA
Variant:p.P217S
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PIGA

NM_002641.4:p.P217S

Associated Papers

Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency.

Kozyra EJ et al.

Leukemia, 2020

32555368 (PubMed )
Supplement: 41375_2020_899_MOESM1_ESM.docx

Decay-accelerating factor (CD55) deficiency phenotypes in Japanese.

Daniels GL et al.

Transfusion Medicine (oxford, England), 1998

[A molecular approach to the structure, polymorphism and function of blood groups].

Cartron JP

Transfusion Clinique Et Biologique : Journal De La Societe Francaise De Transfusion Sanguine, 1996

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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."