Varaico: Literature-Extracted Genetic Variants

Gene:ATP11C
Variant:p.L789F
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ATP11C

NM_001010986.3:p.L789F

Associated Papers

Not-So-Rare Defects of RBC Lipidic Composition: Four New Cases of Flippase Deficiency Due to ATP11C Mutations.

Fermo E et al.

International Journal of Molecular Sciences, 2025

A novel missense variant in ATP11C is associated with reduced red blood cell phosphatidylserine flippase activity and mild hereditary hemolytic anemia.

van Dijk MJ et al.

American Journal of Hematology, 2023

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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."