Varaico: Literature-Extracted Genetic Variants

Gene:OTOA
Variant:p.K440_V441Splc
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OTOA

NM_144672.4:p.K440_V441Splc

Associated Papers

The landscape of autosomal recessive variants in an isolated community: Implications for population screening for reproductive purposes.

Khayat M et al.

Clinical Genetics, 2021

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

Sugiyama K et al.

Genes, 2019

Clarification of glycosylphosphatidylinositol anchorage of OTOANCORIN and human OTOA variants associated with deafness.

Kim BJ et al.

Human Mutation, 2019

Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families.

Lee K et al.

Clinical Genetics, 2013

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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."