Varaico: Literature-Extracted Genetic Variants

Gene:OPA1
Variant:p.D438A
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OPA1

NM_015560.3:p.D438A

Associated Papers

Mutations at a split codon in the GTPase-encoding domain of OPA1 cause dominant optic atrophy through different molecular mechanisms.

Weisschuh N et al.

Human Molecular Genetics, 2022

Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%.

Almind GJ et al.

Bmc Medical Genetics, 2012

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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."