Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.V186F
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SLC26A4

NM_000441.2:p.V186F

Associated Papers

Functional Studies of Deafness-Associated Pendrin and Prestin Variants.

Takahashi S et al.

International Journal of Molecular Sciences, 2024

Functional studies of deafness-associated pendrin and prestin variants.

Takahashi S et al.

Biorxiv : the Preprint Server for Biology, 2024

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

Systematic quantification of the anion transport function of pendrin (SLC26A4) and its disease-associated variants.

Wasano K et al.

Human Mutation, 2020

Atypical patterns of segregation of familial enlargement of the vestibular aqueduct.

Muskett JA et al.

The Laryngoscope, 2016

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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."