Varaico: Literature-Extracted Genetic Variants

Gene:OPA1
Variant:p.H312Y
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OPA1

NM_130837.3:p.H312Y

Associated Papers

Analysis of opa1 isoforms expression and apoptosis regulation in autosomal dominant optic atrophy (ADOA) patients with mutations in the opa1 gene.

Formichi P et al.

Journal of the Neurological Sciences, 2015

Mutation screening of mitochondrial DNA as well as OPA1 and OPA3 in a Chinese cohort with suspected hereditary optic atrophy.

Chen J et al.

Investigative Ophthalmology & Visual Science, 2014

A novel mutation producing premature termination codon at the OPA1 gene causes autosomal dominant optic atrophy.

Cardaioli E et al.

Journal of Neurology, 2006

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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."