Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.C565fs
Back to variants list

SLC26A4

NM_000441.2:p.C565fs

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

Spectrum and Frequencies of Genes for Inherited Hearing Loss in Southwestern Chinese Families.

Xiao Y et al.

Genetic Testing and Molecular Biomarkers, 2025

Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.

Huang Q et al.

Human Genomics, 2024

39380106 (PubMed )
Supplement: 40246_2024_680_MOESM1_ESM.xlsx › Supplementary_Table_3

Analysis of deafness susceptibility gene of neonates in northern Guangdong, China.

Ma Z et al.

Scientific Reports, 2024

Molecular Genetic Screening of Neonatal Intensive Care Units: Hyperbilirubinemia as an Example.

Yang Y et al.

The Application of Clinical Genetics, 2022

Next-generation sequencing-based mutation analysis of genes associated with enlarged vestibular aqueduct in Chinese families.

Liu Y et al.

European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 2020

Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls.

Yuan Y et al.

European Journal of Human Genetics : Ejhg, 2020

31541171 (PubMed )
Supplement: 41431_2019_510_MOESM2_ESM.xlsx › Sheet2

Mutation analysis of common deafness-causing genes among 506 patients with nonsyndromic hearing loss from Wenzhou city, China.

Xiang YB et al.

International Journal of Pediatric Otorhinolaryngology, 2019

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."