Varaico: Literature-Extracted Genetic Variants

Gene:OPA1
Variant:p.E12E
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OPA1

NM_130837.3:p.E12E

Associated Papers

Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles.

Smaragda K et al.

Journal of Ophthalmology, 2018

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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."