Varaico: Literature-Extracted Genetic Variants

Gene:OTOF
Variant:p.R58_N59insC
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OTOF

NM_194248.3:p.R58_N59insC

Associated Papers

The Clinical Next-Generation Sequencing Database: A Tool for the Unified Management of Clinical Information and Genetic Variants to Accelerate Variant Pathogenicity Classification.

Nishio SY et al.

Human Mutation, 2017

28008688 (PubMed )
Supplement: HUMU-38-252-s001.pdf
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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."