Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.N62N
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GJB2

NM_004004.6:p.N62N

Associated Papers

Genetics of Hearing Loss in North Iran Population: An Update of Spectrum and Frequency of GJB2 Mutations.

Koohiyan M et al.

Journal of Audiology & Otology, 2019

Mutation analysis of common deafness genes among 1,201 patients with non-syndromic hearing loss in Shanxi Province.

Zhou Y et al.

Molecular Genetics & Genomic Medicine, 2019

Sequencing of GJB2 in Cameroonians and Black South Africans and comparison to 1000 Genomes Project Data Support Need to Revise Strategy for Discovery of Nonsyndromic Deafness Genes in Africans.

Bosch J et al.

Omics : a Journal of Integrative Biology, 2014

Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.

Carmi S et al.

Nature Communications, 2014

25203624 (PubMed )
Supplement: ncomms5835-s5.xlsx › List_of_all_discovered_variants

Update of the spectrum of GJB2 mutations in 107 patients with nonsyndromic hearing loss in the Fujian population of China.

Chen T et al.

Annals of Human Genetics, 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

GJB2 and MTRNR1 contributions in children with hearing impairment from Northern Cameroon.

Trotta L et al.

International Journal of Audiology, 2011

Carrier frequency of GJB2 (connexin-26) mutations causing inherited deafness in the Korean population.

Han SH et al.

Journal of Human Genetics, 2008

A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.

Putcha GV et al.

Genetics in Medicine : Official Journal of the American College 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."