Varaico: Literature-Extracted Genetic Variants

Gene:OPA1
Variant:p.H907R
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OPA1

NM_130837.3:p.H907R

Associated Papers

Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy.

Toomes C et al.

Human Molecular Genetics, 2001

Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy.

Delettre C et al.

Nature Genetics, 2000

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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."