Varaico: Literature-Extracted Genetic Variants

Gene:OPA1
Variant:p.R987C
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OPA1

NM_130837.3:p.R987C

Associated Papers

Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria.

Adeyemo A et al.

European Journal of Human Genetics : Ejhg, 2022

Pathogenicity evaluation and the genotype-phenotype analysis of OPA1 variants.

Xu X et al.

Molecular Genetics and Genomics : Mgg, 2021

Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.

Ferré M et al.

Human Mutation, 2009

Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect.

Nochez Y et al.

Molecular Vision, 2009

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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."