Varaico: Literature-Extracted Genetic Variants

Gene:ATP12A
Variant:p.V206E
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ATP12A

NM_001676.7:p.V206E

Associated Papers

The MELAS mutations 3946 and 3949 perturb the critical structure in a conserved loop of the ND1 subunit of mitochondrial complex I.

Kervinen M et al.

Human Molecular Genetics, 2006

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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."