Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.A434D
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SLC26A4

NM_000441.2:p.A434D

Associated Papers

Novel genetic determinants contribute to hearing loss in a central European cohort with enlarged vestibular aqueduct.

Bernardinelli E et al.

Molecular Medicine (cambridge, Mass.), 2025

Asymmetric pendrin homodimer reveals its molecular mechanism as anion exchanger.

Liu Q et al.

Nature Communications, 2023

37230976 (PubMed )
Supplement: 41467_2023_38303_MOESM3_ESM.xlsx › Sheet1

Genetic Determinants of Non-Syndromic Enlarged Vestibular Aqueduct: A Review.

Roesch S et al.

Audiology Research, 2021

Clinical Interpretation of Sequence Variants.

Zhang J et al.

Current Protocols in Human Genetics, 2020

Functional Testing of SLC26A4 Variants-Clinical and Molecular Analysis of a Cohort with Enlarged Vestibular Aqueduct from Austria.

Roesch S et al.

International Journal of Molecular Sciences, 2018

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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."