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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OPA3

Variant:p.L156R

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OPA3

NM_025136.4:p.L156R

hg38:chr19:45553587 A>C

Associated Papers

Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines.

Mavraki E et al.

European Journal of Human Genetics : Ejhg, 2023

36513735 (PubMed )

Mitochondrial Retinopathies.

Zeviani M et al.

International Journal of Molecular Sciences, 2021

35008635 (PubMed )

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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."