Varaico: Literature-Extracted Genetic Variants

Gene:LOXHD1
Variant:p.T909M
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LOXHD1

NM_001384474.1:p.T909M

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

Five Novel Mutations in LOXHD1 Gene Were Identified to Cause Autosomal Recessive Nonsyndromic Hearing Loss in Four Chinese Families.

Bai X et al.

Biomed Research International, 2020

Corrigendum to "Five Novel Mutations in LOXHD1 Gene Were Identified to Cause Autosomal Recessive Nonsyndromic Hearing Loss in Four Chinese Families".

Bai X et al.

Biomed Research International, 2020

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."