Varaico: Literature-Extracted Genetic Variants

Gene:OPA1
Variant:p.S107S
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OPA1

NM_130837.3:p.S107S

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

Novel mutations of the OPA1 gene in Chinese dominant optic atrophy.

Yen MY et al.

Ophthalmology, 2010

Novel mutations in the OPA1 gene and associated clinical features in Japanese patients with optic atrophy.

Nakamura M et al.

Ophthalmology, 2006

OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance.

Pesch UE et al.

Human Molecular Genetics, 2001

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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."