Varaico: Literature-Extracted Genetic Variants

Gene:OPA1
Variant:p.M449L
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OPA1

NM_130837.3:p.M449L

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

A Novel Missense OPA1 Mutation in a Patient with Dominant Optic Atrophy and Cervical Dystonia.

Ortega-Suero G et al.

Movement Disorders Clinical Practice, 2019

Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder.

Liskova P et al.

Acta Ophthalmologica, 2013

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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."