Varaico: Literature-Extracted Genetic Variants

Gene:DNM2
Variant:p.W548_Y549insFs
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DNM2

NM_004945.4:p.W548_Y549insFs

Associated Papers

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28.

Alexander 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."