Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.L171insFs
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SLC26A4

NM_000441.2:p.L171insFs

Associated Papers

Genotype Characteristics and Hearing Phenotype Analysis of Newborns with Biallelic GJB2 Mutations: A 652-Case-Cohort Study.

Li J et al.

International Journal of Neonatal Screening, 2025

[Mutation spectrum analysis of 23-site chip neonatal deafness genetic screening].

Ruan Y et al.

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2024

Gene Screening for Non-Syndromic Deafness in Hainanese Patients.

Fu Y et al.

The Journal of International Advanced Otology, 2023

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

Hu H et al.

Medicine, 2021

Genetic mutations in patients with nonsyndromic hearing impairment of minority and Han Chinese ethnicities in Qinghai, China.

Duan S et al.

The Journal of International Medical Research, 2021

Gene mutation analysis and genetic counseling for patients with non-syndromic hearing loss in Linyi region.

Li H et al.

Experimental and Therapeutic Medicine, 2019

GJB2, SLC26A4, and mitochondrial DNA12S rRNA hot-spots in 156 subjects with non-syndromic hearing loss in Tengzhou, China.

Ma Y et al.

Acta Oto-laryngologica, 2016

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

A study of deafness-related genetic mutations as a basis for strategies to prevent hereditary hearing loss in Hebei, China.

Zhu J et al.

Intractable & Rare Diseases Research, 2015

Mutation Spectrum of Common Deafness-Causing Genes in Patients with Non-Syndromic Deafness in the Xiamen Area, China.

Jiang Y et al.

Plos One, 2015

A rapid method for simultaneous multi-gene mutation screening in children with nonsyndromic hearing loss.

Du W et al.

Genomics, 2014

Developing regional genetic counseling for southern Chinese with nonsyndromic hearing impairment: a unique mutational spectrum.

Chen K et al.

Journal of Translational Medicine, 2014

Genetic mutations in nonsyndromic deafness patients of Chinese minority and Han ethnicities in Yunnan, China.

Xin F et al.

Journal of Translational Medicine, 2013

Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: a multicenter study.

Usami S et al.

Plos One, 2012

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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."