Varaico: Literature-Extracted Genetic Variants

Gene:OPA1
Variant:p.Q304*
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OPA1

NM_130837.3:p.Q304*

Associated Papers

Super-Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review.

Mohammadi P et al.

Annals of Clinical and Translational Neurology, 2026

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."