Varaico: Literature-Extracted Genetic Variants

Gene:OTOA
Variant:p.L622H
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OTOA

NM_144672.4:p.L622H

Associated Papers

Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Tollefson MR et al.

Human Genetics, 2023

37086329 (PubMed )
Supplement: 439_2023_2559_MOESM3_ESM.xlsx › Sheet1

Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of OTOA-Associated Hearing Loss.

Sugiyama K et al.

Genes, 2019

Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations.

Morgan A et al.

Frontiers in Genetics, 2018

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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."