Varaico: Literature-Extracted Genetic Variants

Gene:COX15
Variant:p.L139V
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COX15

NM_078470.6:p.L139V

Associated Papers

Clinical Phenotype and Neuroimaging Findings in Siblings with COX15 Deficiency: Case Report and Review of Previously Reported Cases.

AlFaris HS et al.

Movement Disorders Clinical Practice, 2025

Mitochondrial protein dysfunction in pathogenesis of neurological diseases.

Wang L et al.

Frontiers in Molecular Neuroscience, 2022

Phenotypic variability and mutation hotspot in COX15-related Leigh syndrome.

Halperin D et al.

American Journal of Medical Genetics. Part A, 2020

Leigh syndrome associated with a novel mutation in the COX15 gene.

Miryounesi M et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2016

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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."