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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OPA1

Variant:p.E967*

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OPA1

NM_130837.3:p.E967*

hg38:chr3:193667196 G>T

Associated Papers

OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database.

Le Roux B et al.

Orphanet Journal of Rare Diseases, 2019

31500643 (PubMed )

Supplement: 13023_2019_1187_MOESM1_ESM.pdf

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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."