Varaico: Literature-Extracted Genetic Variants

Gene:OPA1
Variant:p.K979_I980del1
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OPA1

NM_130837.3:p.K979_I980del1

Associated Papers

Serum neuronal, glial and mitochondrial markers in autosomal dominant optic atrophy and Leber hereditary optic neuropathy.

Rufa A et al.

Brain Communications, 2025

Genotype-phenotype and OCT correlations in Autosomal Dominant Optic Atrophy related to OPA1 gene mutations: Report of 13 Italian families.

Pretegiani E et al.

Journal of the Neurological Sciences, 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."