Varaico: Literature-Extracted Genetic Variants

Gene:OPA1
Variant:p.P400A
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OPA1

NM_015560.3:p.P400A

Associated Papers

Mutation Screening of mtDNA Combined Targeted Exon Sequencing in a Cohort With Suspected Hereditary Optic Neuropathy.

Li JK et al.

Translational Vision Science & Technology, 2020

32855858 (PubMed )
Supplement: tvst-9-8-11_s002.pdf

Molecular Impairment Mechanisms of Novel OPA1 Mutations Predicted by Molecular Modeling in Patients With Autosomal Dominant Optic Atrophy and Auditory Neuropathy Spectrum Disorder.

Namba K et al.

Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2016

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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."