Varaico: Literature-Extracted Genetic Variants

Gene:PIGA
Variant:p.S127L
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PIGA

NM_002641.4:p.S127L

Associated Papers

Unexpected identification of obesity-associated mutations in LEP and MC4R genes in patients with anorexia nervosa.

Rajcsanyi LS et al.

Scientific Reports, 2024

38528040 (PubMed )
Supplement: 41598_2024_57517_MOESM1_ESM.pdf

Constitutional PIGA mutations cause a novel subtype of hemochromatosis in patients with neurologic dysfunction.

Muckenthaler L et al.

Blood, 2022

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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."