Varaico: Literature-Extracted Genetic Variants

Gene:OPA1
Variant:p.R290L
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OPA1

NM_130837.3:p.R290L

Associated Papers

Drug repositioning as a therapeutic strategy for neurodegenerations associated with OPA1 mutations.

Aleo SJ et al.

Human Molecular Genetics, 2021

33231680 (PubMed )
Supplement: supplementary_material_19-10-20_ddaa244.docx

OPA1-associated disorders: phenotypes and pathophysiology.

Amati-Bonneau P et al.

The International Journal of Biochemistry & Cell Biology, 2009

Opa1 deficiency in a mouse model of autosomal dominant optic atrophy impairs mitochondrial morphology, optic nerve structure and visual function.

Davies VJ et al.

Human Molecular Genetics, 2007

OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance.

Pesch UE et al.

Human Molecular Genetics, 2001

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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."