Varaico: Literature-Extracted Genetic Variants

Gene:ATP11C
Variant:p.T418N
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ATP11C

NM_001010986.3:p.T418N

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

Identification and functional analyses of disease-associated P4-ATPase phospholipid flippase variants in red blood cells.

Liou AY et al.

The Journal of Biological Chemistry, 2019

ATP11C is a major flippase in human erythrocytes and its defect causes congenital hemolytic anemia.

Arashiki N et al.

Haematologica, 2016

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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."