Varaico: Literature-Extracted Genetic Variants

Gene:OPA1
Variant:p.G443S
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OPA1

NM_130837.3:p.G443S

Associated Papers

Distinct genetic patterns and natural history of OPA1-related auditory neuropathy in Chinese population.

Wang H et al.

Orphanet Journal of Rare Diseases, 2025

41107984 (PubMed )
Supplement: 13023_2025_4040_MOESM1_ESM.docx

Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.

Peng Y et al.

Human Molecular Genetics, 2017

29040572 (PubMed )
Supplement: ddx377_supplementary_data_09282017.pdf

Multi-system neurological disease is common in patients with OPA1 mutations.

Yu-Wai-Man P et al.

Brain : a Journal of Neurology, 2010

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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."