Varaico: Literature-Extracted Genetic Variants

Gene:SCO2
Variant:p.M177T
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SCO2

NM_005138.3:p.M177T

Associated Papers

Mitochondrial copper in human genetic disorders.

Garza NM et al.

Trends in Endocrinology and Metabolism: Tem, 2023

No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction.

Piekutowska-Abramczuk D et al.

Jimd Reports, 2016

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

Chadha R et al.

Bioinformation, 2014

The natural history of SCO2 deficiency in 36 Polish children confirmed the genotype-phenotype correlation.

Pronicka E et al.

Mitochondrion, 2013

A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency.

Pronicki M et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2010

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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."