Varaico: Literature-Extracted Genetic Variants

Gene:SCO2
Variant:p.W75R
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SCO2

NM_005138.3:p.W75R

Associated Papers

Protein Transduction Domain-Mediated Delivery of Recombinant Proteins and In Vitro Transcribed mRNAs for Protein Replacement Therapy of Human Severe Genetic Mitochondrial Disorders: The Case of Sco2 Deficiency.

Miliotou AN et al.

Pharmaceutics, 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

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

Pronicka E et al.

Mitochondrion, 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."