Varaico: Literature-Extracted Genetic Variants

Gene:COX18
Variant:p.L72R
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COX18

NM_001297732.2:p.L72R

Associated Papers

Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy.

Armirola-Ricaurte C et al.

Brain : a Journal of Neurology, 2026

Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy.

Armirola-Ricaurte C et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

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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."