Varaico: Literature-Extracted Genetic Variants

Gene:COX18
Variant:p.R305H
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COX18

NM_001300729.1:p.R305H

Associated Papers

A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy.

Ronchi D et al.

European Journal of Human Genetics : Ejhg, 2023

Exome sequencing utility in defining the genetic landscape of hearing loss and novel-gene discovery in Iran.

Mohseni M et al.

Clinical Genetics, 2021

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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."