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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COX6A1

Variant:p.*110L

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COX6A1

NM_004373.4:p.*110L

hg38:chr12:120440536 A>T

Associated Papers

A novel homozygous COX6A1 variant causes axonal charcot-marie-tooth disease, developmental delays and mitochondrial dysfunction.

Cai Q et al.

Journal of Human Genetics, 2026

41044399 (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."