Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.L171insFs
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SLC26A4

NM_000441.2:p.L171insFs

Associated Papers

Mutation spectrum and hotspots of the common deafness genes in 314 patients with nonsyndromic hearing loss in Heze area, China.

Zhang M et al.

Acta Oto-laryngologica, 2019

Analysis of mutation spectrum of common deafness-causing genes in Hakka newborns in southern China by semiconductor sequencing.

Zhao P et al.

Medicine, 2018

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

Prevalence of Mutations in Deafness-Causing Genes in Cochlear Implanted Patients with Profound Nonsyndromic Sensorineural Hearing Loss in Shandong Province, China.

Luo J et al.

Annals of Human Genetics, 2017

Genetic counseling for patients with nonsyndromic hearing impairment directed by gene analysis.

Ma D et al.

Molecular Medicine Reports, 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

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

Gao Z et al.

Plos One, 2016

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
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