Varaico: Literature-Extracted Genetic Variants

Gene:OPA1
Variant:p.A936A
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OPA1

NM_015560.3:p.A936A

Associated Papers

Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy.

Chen Y et al.

Molecular Vision, 2013

A novel OPA1 mutation responsible for autosomal dominant optic atrophy with high frequency hearing loss in a Chinese family.

Chen S et al.

American Journal of Ophthalmology, 2007

The G401D mutation of OPA1 causes autosomal dominant optic atrophy and hearing loss in a Chinese family.

Ke T et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 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."