Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.E704K
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SLC26A4

NM_000441.2:p.E704K

Associated Papers

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

Targeted next-generation sequencing of deaf patients from Southwestern China.

Li Y et al.

Molecular Genetics & Genomic Medicine, 2021

A novel mutation in the SLC26A4 gene in a Chinese family with non-syndromic hearing loss and enlarged vestibular aqueduct.

Liang Y et al.

International Journal of Pediatric Otorhinolaryngology, 2018

Genetics of vestibular syndromes.

Roman-Naranjo P et al.

Current Opinion in Neurology, 2018

Identification of SLC26A4 mutations p.L582LfsX4, p.I188T and p.E704K in a Chinese family with large vestibular aqueduct syndrome (LVAS).

Li Y et al.

International Journal of Pediatric Otorhinolaryngology, 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."