Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.D661E
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SLC26A4

NM_000441.2:p.D661E

Associated Papers

Novel Insights into the Enigmatic Genetics of Male Breast Cancer in China.

Lang GT et al.

Pathophysiology : the Official Journal of the International Society for Pathophysiology, 2026

41718387 (PubMed )
Supplement: pathophysiology-33-00009-s001.zip › Supplementary_Table_2.pdf

Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.

Ayoub C et al.

Human Genomics, 2025

41430327 (PubMed )
Supplement: 40246_2025_891_MOESM1_ESM.xlsx › Supplementary_Table_S2.

Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.

Yin X et al.

Nature Communications, 2025

40044664 (PubMed )
Supplement: 41467_2025_57520_MOESM5_ESM.xlsx › Supplementary_Data_2_Deleteriou

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

Selection of Diagnostically Significant Regions of the SLC26A4 Gene Involved in Hearing Loss.

Danilchenko VY et al.

International Journal of Molecular Sciences, 2022

36362242 (PubMed )
Supplement: ijms-23-13453-s001.zip › Table_S2.pdf

Racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing for sensorineural hearing loss.

Florentine MM et al.

Human Genetics, 2022

34515852 (PubMed )
Supplement: 439_2021_2338_MOESM2_ESM.xlsx › All_variants

Mutation Screening and Functional Study of SLC26A4 in Chinese Patients with Congenital Hypothyroidism

Zhang CR et al.

Journal of Clinical Research in Pediatric Endocrinology, 2022

Genetic Susceptibility Study of Chinese Sudden Sensorineural Hearing Loss Patients with Vertigo.

Gao Y et al.

Current Medical Science, 2021

Two Compound Heterozygous Were Identified in SLC26A4 Gene in Two Chinese Families With Enlarged Vestibular Aqueduct.

Yu Y et al.

Clinical and Experimental Otorhinolaryngology, 2019

OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients.

Iwasa YI et al.

Plos One, 2019

Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.

Azaiez H et al.

American Journal of Human Genetics, 2018

30245029 (PubMed )
Supplement: mmc2.xlsx › Table_S3

Genetic mutations in non-syndromic deafness patients in Hainan Province have a different mutational spectrum compared to patients from Mainland China.

Huang B et al.

International Journal of Pediatric Otorhinolaryngology, 2018

Indispensable Role of Ion Channels and Transporters in the Auditory System.

Mittal R et al.

Journal of Cellular Physiology, 2017

Mutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism.

Fu C et al.

Archives of Endocrinology and Metabolism, 2016

Novel mutations of SLC26A4 in Chinese patients with nonsyndromic hearing loss.

Yao G et al.

Acta Oto-laryngologica, 2013

Molecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in China.

Yuan Y et al.

Plos One, 2012

Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting.

Chen N et al.

The Journal of Molecular Diagnostics : Jmd, 2011

GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects.

Guo YF et al.

Acta Oto-laryngologica, 2008

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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."