Varaico: Literature-Extracted Genetic Variants

Gene:SON
Variant:p.R1081R
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SON

NM_138927.4:p.R1081R

Associated Papers

Association of mitochondrial DNA variation with high myopia in a Han Chinese population.

Xing S et al.

Molecular Genetics and Genomics : Mgg, 2023

Effects of MOTS-c on the mitochondrial function of cells harboring 3243 A to G mutant mitochondrial DNA.

Ahn CH et al.

Molecular Biology Reports, 2020

Somatic mtDNA variation is an important component of Parkinson's disease.

Coxhead J et al.

Neurobiology of Aging, 2016

Influence of erythrocyte oxygenation and intravascular ATP on resting and exercising skeletal muscle blood flow in humans with mitochondrial myopathy.

Jeppesen TD et al.

Mitochondrion, 2012

Mitochondria.

Chinnery PF et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2003

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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."