Varaico: Literature-Extracted Genetic Variants

Gene:OPA1
Variant:p.G26del1
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OPA1

NM_130837.3:p.G26del1

Associated Papers

Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation.

Tulli S et al.

Journal of Medical Genetics, 2019

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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."