Varaico: Literature-Extracted Genetic Variants

Gene:OPA1
Variant:p.G494_A498delFs
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OPA1

NM_130837.3:p.G494_A498delFs

Associated Papers

Comprehensive cDNA study and quantitative transcript analysis of mutant OPA1 transcripts containing premature termination codons.

Schimpf S et al.

Human Mutation, 2008

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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."