Varaico: Literature-Extracted Genetic Variants

Gene:SCO2
Variant:p.C133Y
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SCO2

NM_005138.3:p.C133Y

Associated Papers

Adult Cerebellar Ataxia, Axonal Neuropathy, and Sensory Impairments Caused by Biallelic SCO2 Variants.

Rucheton B et al.

Neurology. Genetics, 2021

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

MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.

Fukasawa Y et al.

Molecular & Cellular Proteomics : Mcp, 2015

25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A

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

Chadha R et al.

Bioinformation, 2014

Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype.

Tarnopolsky MA et al.

American Journal of Medical Genetics. Part A, 2004

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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."