Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.T410K
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SLC26A4

NM_000441.2:p.T410K

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

Mutation analysis of GJB2, SLC26A4, GJB3 and mtDNA12SrRNA genes in 251 non-syndromic hearing loss patients in Fujian, China.

Xiong Y et al.

International Journal of Pediatric Otorhinolaryngology, 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

Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome.

Li M et al.

Nature Communications, 2020

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

Wasano K et al.

Human Mutation, 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."