Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.P123H
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SLC26A4

NM_000441.2:p.P123H

Associated Papers

Gene Screening for Non-Syndromic Deafness in Hainanese Patients.

Fu Y et al.

The Journal of International Advanced Otology, 2023

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

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

The Clinical Next-Generation Sequencing Database: A Tool for the Unified Management of Clinical Information and Genetic Variants to Accelerate Variant Pathogenicity Classification.

Nishio SY et al.

Human Mutation, 2017

28008688 (PubMed )
Supplement: HUMU-38-252-s001.pdf

Application of a New Genetic Deafness Microarray for Detecting Mutations in the Deaf in China.

Wu H et al.

Plos One, 2016

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

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

Chen K et al.

Journal of Translational Medicine, 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

Analysis of GJB2 Gene Mutations in 1330 Deafness Cases of Major Ethnic Groups in Northwest China.

Bian P et al.

Inquiry : a Journal of Medical Care Organization, Provision and Financing, 0

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