Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.G139E
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SLC26A4

NM_000441.2:p.G139E

Associated Papers

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.

Genetic screening for hearing loss of 38,589 neonates with follow-up in South China.

Gu X et al.

Human Genomics, 2025

Hereditary deafness carrier screening in 9,993 Chinese individuals.

Liu Y et al.

Frontiers in Genetics, 2023

38274112 (PubMed )
Supplement: Table1.XLSX › Table_S3_Variant_spectrum_of_SL

Pregestational screening of hereditary deafness genes carriers in 10,684 normal pregnant women in Zhuzhou, China.

Qi M et al.

Birth Defects Research, 2021

Genetic testing involving 100 common mutations for antenatal diagnosis of hereditary hearing loss in Chongqing, China.

Hu H et al.

Medicine, 2021

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

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

Analysis between phenotypes and genotypes of inner ear malformation.

Wang S et al.

Acta Oto-laryngologica, 2019

A quantitative cSMART assay for noninvasive prenatal screening of autosomal recessive nonsyndromic hearing loss caused by GJB2 and SLC26A4 mutations.

Han M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan Assay.

Zhang F et al.

Biomed Research International, 2016

27247933 (PubMed )
Supplement: 1302914.f1.pdf

Application of SNPscan in Genetic Screening for Common Hearing Loss Genes.

Gao Z et al.

Plos One, 2016

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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