Varaico: Literature-Extracted Genetic Variants

Gene:TWNK
Variant:p.R406Q
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TWNK

NM_021830.5:p.R406Q

Associated Papers

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

Tufatulin GS et al.

The Journal of International Advanced Otology, 2025

Identification of genetic mechanisms of non-isolated auditory neuropathy with various phenotypes in Chinese families.

Cao Y et al.

Orphanet Journal of Rare Diseases, 2025

Can endogenous ethylene glycol production occur in humans? A detailed investigation of adult monozygotic twin sisters.

Ghannoum M et al.

Clinical Toxicology (philadelphia, Pa.), 2024

Clinical and genetic architecture of a large cohort with auditory neuropathy.

Wang H et al.

Human Genetics, 2024

38456936 (PubMed )
Supplement: 439_2024_2652_MOESM1_ESM.xlsx › Supplementary_Data_4

Outcomes of cochlear implantation in 75 patients with auditory neuropathy.

Wu J et al.

Frontiers in Neuroscience, 2023

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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."