Varaico: Literature-Extracted Genetic Variants

Gene:OTOA
Variant:p.H987fs
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OTOA

NM_144672.4:p.H987fs

Associated Papers

Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.

Tran Mau-Them F et al.

Molecular Genetics & Genomic Medicine, 2021

34716697 (PubMed )
Supplement: MGG3-9-e1836-s002.xlsx › Feuil1

DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System.

Sommen M et al.

Human Mutation, 2016

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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."