Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.Q596*
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SLC26A4

NM_000441.2:p.Q596*

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

Revisiting Genetic Epidemiology with a Refined Targeted Gene Panel for Hereditary Hearing Impairment in the Taiwanese Population.

Lee YH et al.

Genes, 2023

37107638 (PubMed )
Supplement: genes-14-00880-s001.zip › genes-2290782-supplementary.pdf

Increased diagnosis of enlarged vestibular aqueduct by multiplex PCR enrichment and next-generation sequencing of the SLC26A4 gene.

Tian Y et al.

Molecular Genetics & Genomic Medicine, 2021

Genetic Epidemiology and Clinical Features of Hereditary Hearing Impairment in the Taiwanese Population.

Wu CC et al.

Genes, 2019

Molecular analysis of human solute carrier SLC26 anion transporter disease-causing mutations using 3-dimensional homology modeling.

Rapp C et al.

Biochimica Et Biophysica Acta. Biomembranes, 2017

A New Genetic Diagnostic for Enlarged Vestibular Aqueduct Based on Next-Generation Sequencing.

Liu Y et al.

Plos One, 2016

Phenotypic analyses and mutation screening of the SLC26A4 and FOXI1 genes in 101 Taiwanese families with bilateral nonsyndromic enlarged vestibular aqueduct (DFNB4) or Pendred syndrome.

Wu CC et al.

Audiology & Neuro-otology, 2010

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