Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D24
Variant:p.N307S
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TBC1D24

NM_001199107.2:p.N307S

Associated Papers

Mendelian non-syndromic and syndromic hearing loss genes contribute to presbycusis.

Cornejo-Sanchez DM et al.

European Journal of Human Genetics : Ejhg, 2025

Population-scale analysis of common and rare genetic variation associated with hearing loss in adults.

Praveen K et al.

Communications Biology, 2022

The genetic architecture of age-related hearing impairment revealed by genome-wide association analysis.

Ivarsdottir EV et al.

Communications Biology, 2021

34108613 (PubMed )
Supplement: 42003_2021_2224_MOESM2_ESM.pdf

A Novel Variant in the TBC1D24 Lipid-Binding Pocket Causes Autosomal Dominant Hearing Loss: Evidence for a Genotype-Phenotype Correlation.

Parzefall T et al.

Frontiers in Cellular Neuroscience, 2020

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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."