Varaico: Literature-Extracted Genetic Variants

Gene:SCO2
Variant:p.A97V
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SCO2

NM_005138.3:p.A97V

Associated Papers

Genetic and clinical landscape of ARR3-associated MYP26: the most common cause of Mendelian early-onset high myopia with a unique inheritance.

Wang Y et al.

The British Journal of Ophthalmology, 2023

36180177 (PubMed )
Supplement: bjo-2022-321511supp006.pdf

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

Whole-Exome Sequencing in a Cohort of High Myopia Patients in Northwest China.

Liu Y et al.

Frontiers in Cell and Developmental Biology, 2021

Expanding the Phenotypic and Genotypic Landscape of Nonsyndromic High Myopia: A Cross-Sectional Study in 731 Chinese Patients.

Cai XB et al.

Investigative Ophthalmology & Visual Science, 2019

Association between SCO2 mutation and extreme myopia in Japanese patients.

Wakazono T et al.

Japanese Journal of Ophthalmology, 2016

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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."