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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OPA1

Variant:p.K995Splc

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OPA1

NM_130837.3:p.K995Splc

hg38:chr3:193667284 A>G

Associated Papers

SDOCT thickness measurements of various retinal layers in patients with autosomal dominant optic atrophy due to OPA1 mutations.

Schild AM et al.

Biomed Research International, 2013

24024178 (PubMed )

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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."