Varaico: Literature-Extracted Genetic Variants

Gene:OTOF
Variant:p.E1700G
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OTOF

NM_194248.3:p.E1700G

Associated Papers

Structure and function of otoferlin, a synaptic protein of sensory hair cells essential for hearing.

Chen H et al.

Science Advances, 2025

41091875 (PubMed )
Supplement: sciadv.ady8532_sm.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."