Varaico: Literature-Extracted Genetic Variants

Gene:TWNK
Variant:p.R400L
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TWNK

NM_021830.5:p.R400L

Associated Papers

A Case Report of Auditory Neuropathy Due to TWNK Gene Mutations.

Tufatulin GS et al.

The Journal of International Advanced Otology, 2025

The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.

Yanus GA et al.

International Journal of Molecular Sciences, 2024

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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."