Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.R549fs
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SLC26A4

NM_000441.2:p.R549fs

Associated Papers

Clinical application of whole exome sequencing (WES) in the genetic diagnosis of 768 Chinese patients with bilateral hearing loss.

Kang H et al.

European Journal of Human Genetics : Ejhg, 2025

40542191 (PubMed )
Supplement: 41431_2025_1896_MOESM1_ESM.xlsx › Sheet1

Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.

Xi Y et al.

Molecular Genetics & Genomic Medicine, 2020

32573981 (PubMed )
Supplement: MGG3-8-e1340-s004.pdf

A novel compound heterozygous mutation of SLC26A4 in two Chinese families with nonsyndromic hearing loss and enlarged vestibular aqueducts.

Zhu GJ et al.

Molecular Medicine Reports, 2017

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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."