Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.R24Q
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SLC26A4

NM_000441.2:p.R24Q

Associated Papers

GJB2-Related Hearing Loss: Genotype-Phenotype Correlations, Natural History, and Emerging Therapeutic Strategies.

Morris JA et al.

International Journal of Molecular Sciences, 2026

Combined hearing screening and genetic screening of deafness among Sanya newborns in Hainan Province.

Chen L et al.

International Journal of Pediatric Otorhinolaryngology, 2025

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

Genetic landscape of hearing loss in prelingual deaf patients of eastern Iran: Insights from exome sequencing analysis.

Alerasool M et al.

Clinical Genetics, 2024

Spectrum of genetic variants in 306 patients with non-syndromic hearing loss from Croatia.

Sansović I et al.

Croatian Medical Journal, 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 › SLC26A4.gvtable.9

Epidemiology, etiology, genetic variants in non- syndromic hearing loss in Iran: A systematic review and meta-analysis.

Aliazami F et al.

International Journal of Pediatric Otorhinolaryngology, 2023

Genetic Etiology of Nonsyndromic Hearing Loss in Hungarian Patients.

Pál M et al.

International Journal of Molecular Sciences, 2023

Molecular and genetic characterization of a large Brazilian cohort presenting hearing loss.

Batissoco AC et al.

Human Genetics, 2022

Genetic etiology of non-syndromic hearing loss in Europe.

Del Castillo I et al.

Human Genetics, 2022

A multiplex PCR amplicon sequencing assay to screen genetic hearing loss variants in newborns.

Yang H et al.

Bmc Medical Genomics, 2021

Hearing Screening Combined with Target Gene Panel Testing Increased Etiological Diagnostic Yield in Deaf Children.

Xie L et al.

Neural Plasticity, 2021

Sequence variants in genes causing nonsyndromic hearing loss in a Pakistani cohort.

Khan A et al.

Molecular Genetics & Genomic Medicine, 2019

A rapid improved multiplex ligation detection reaction method for the identification of gene mutations in hereditary hearing loss.

Liu Y et al.

Plos One, 2019

Genetic Testing of Non-familial Deaf Patients for CIB2 and GJB2 Mutations: Phenotype and Genetic Counselling.

Shaikh H et al.

Biochemical Genetics, 2017

Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis.

Lu YJ et al.

Medicine, 2015

26683941 (PubMed )
Supplement: medi-94-e2248-s002.xls › Sheet1

The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations.

Yan D et al.

Genetic Testing and Molecular Biomarkers, 2015

Strategies for genetic study of hearing loss in the Brazilian northeastern region.

Melo US et al.

International Journal of Molecular Epidemiology and Genetics, 2014

Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.

Shafique S et al.

Plos One, 2014

Comparative study of mutation spectrums of MT-RNR1 m.1555A>G, GJB2, and SLC26A4 between familial and sporadic patients with nonsyndromic sensorineural hearing loss in Chinese Han.

Li Q et al.

Chinese Medical Journal, 2014

KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects.

Zhao J et al.

Plos One, 2014

Molecular epidemiological analysis of mitochondrial DNA12SrRNA A1555G, GJB2, and SLC26A4 mutations in sporadic outpatients with nonsyndromic sensorineural hearing loss in China.

Ji YB et al.

Acta Oto-laryngologica, 2011

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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."