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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OPA1

Variant:p.V450G

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OPA1

NM_130837.3:p.V450G

hg38:chr3:193643416 T>G

Associated Papers

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

Xu X et al.

Molecular Genetics and Genomics : Mgg, 2021

33884488 (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."