Varaico: Literature-Extracted Genetic Variants

Gene:OPA1
Variant:p.S535R
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OPA1

NM_130837.3:p.S535R

Associated Papers

Establishment of a human DOA 'plus' iPSC line, IISHDOi003-A, with the mutation in the OPA1 gene: c.1635C>A; p.Ser545Arg.

Zurita-Díaz F et al.

Stem Cell Research, 2017

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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."