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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP5MK

Variant:p.N29_C30Splc

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ATP5MK

NM_001206427.2:p.N29_C30Splc

hg38:chr10:103392370 C>T

Associated Papers

The fourth family in the world with a novel variant in the ATP5MK gene: four siblings with complex V (ATP synthase) deficiency.

İpek R et al.

Neurogenetics, 2025

40014158 (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."