Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.Q12insFs
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SLC26A4

NM_000441.2:p.Q12insFs

Associated Papers

[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

A novel method for detecting nine hotspot mutations of deafness genes in one tube.

Yu Y et al.

Scientific Reports, 2024

Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations.

Ray M et al.

Journal of Pediatric Genetics, 2022

Congenital hearing loss: a literature review of the genetic etiology in a Mexican population.

Torre-González C et al.

Boletin Medico Del Hospital Infantil De Mexico, 2022

Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations.

Yu X et al.

Orphanet Journal of Rare Diseases, 2020

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

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

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

Xin F et al.

Journal of Translational Medicine, 2013

Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients.

Miyagawa M et al.

Plos One, 2013

23967202 (PubMed )
Supplement: pone.0071381.s005.pdf

[Molecular diagnosis of deafness].

Usami S

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2011

Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations.

Mahdieh N et al.

Journal of Human Genetics, 2010

GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment.

Dai P et al.

Journal of Translational Medicine, 2009

The genetic bases for non-syndromic hearing loss among Chinese.

Ouyang XM et al.

Journal of Human Genetics, 2009

The responsible genes in Japanese deafness patients and clinical application using Invader assay.

Usami S et al.

Acta Oto-laryngologica, 2008

[Molecular genetic analysis of mitochondrial DNA C1494T mutation in non-syndromic hearing loss of Chinese population].

Tian G et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2007

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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."