Varaico: Literature-Extracted Genetic Variants

Gene:SCO2
Variant:p.V160G
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SCO2

NM_005138.3:p.V160G

Associated Papers

SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency.

Rebelo AP et al.

Brain : a Journal of Neurology, 2018

Analysis of reported SCO2 gene mutations affecting cytochrome c oxidase activity in various diseases.

Chadha R et al.

Bioinformation, 2014

Exome sequencing reveals SCO2 mutations in a family presented with fatal infantile hyperthermia.

Sambuughin N et al.

Journal of Human Genetics, 2013

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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."