Varaico: Literature-Extracted Genetic Variants

Gene:COX20
Variant:p.G114S
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COX20

NM_198076.6:p.G114S

Associated Papers

Mitochondrial protein dysfunction in pathogenesis of neurological diseases.

Wang L et al.

Frontiers in Molecular Neuroscience, 2022

Expanding the genotype-phenotype correlation of childhood sensory polyneuropathy of genetic origin.

Chakravorty S et al.

Scientific Reports, 2020

Molecular mechanism of mitochondrial respiratory chain assembly and its relation to mitochondrial diseases.

Mukherjee S et al.

Mitochondrion, 2020

Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy.

Otero MG et al.

Annals of Clinical and Translational Neurology, 2019

Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.

Thierry G et al.

American Journal of Medical Genetics. Part A, 2012

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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."