Varaico: Literature-Extracted Genetic Variants

Gene:ATP11C
Variant:p.P812S
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ATP11C

NM_173694.5:p.P812S

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

Exome sequencing for diagnosis of congenital hemolytic anemia.

Mansour-Hendili L et al.

Orphanet Journal of Rare Diseases, 2020

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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."