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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OVOL2

Variant:p.A62A

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OVOL2

NM_021220.4:p.A62A

hg38:chr20:18056792 C>T

Associated Papers

Confirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1.

Chung DD et al.

Plos One, 2017

28046031 (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."