Varaico: Literature-Extracted Genetic Variants

Gene:LOXHD1
Variant:p.E610K
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LOXHD1

NM_001384474.1:p.E610K

Associated Papers

Rising of LOXHD1 as a signature causative gene of down-sloping hearing loss in people in their teens and 20s.

Kim BJ et al.

Journal of Medical Genetics, 2022

Genetic Analysis of the LOXHD1 Gene in Chinese Patients With Non-Syndromic Hearing Loss.

Wang WQ et al.

Frontiers in Genetics, 2022

A novel LOXHD1 variant in a Chinese couple with hearing loss.

Zhang C et al.

The Journal of International Medical Research, 2019

Mutational Spectrum and Clinical Features of Patients with LOXHD1 Variants Identified in an 8074 Hearing Loss Patient Cohort.

Maekawa K et al.

Genes, 2019

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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."