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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COA7

Variant:p.G83Splc

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COA7

NM_023077.3:p.G83Splc

hg38:chr1:52692726 C>A

Associated Papers

COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency.

Martinez Lyons A et al.

Journal of Medical Genetics, 2016

27683825 (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."