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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP11C

Variant:p.K145_V146Splc

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ATP11C

NM_001010986.3:p.K145_V146Splc

hg38:chrX:139804606 T>C

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

40869043 (PubMed )

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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."