Varaico: Literature-Extracted Genetic Variants

Gene:GJB6
Variant:p.N230insFs
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GJB6

NM_001110219.3:p.N230insFs

Associated Papers

Tight Junction-Related CLDN5 and CLDN6 Genes, and Gap Junction-Related GJB6 and GJB7 Genes Are Somatically Mutated in Gastric and Colorectal Cancers.

Son HJ et al.

Pathology Oncology Research : Por, 2020

Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients.

Baux D et al.

Scientific Reports, 2017

29196752 (PubMed )
Supplement: 41598_2017_16846_MOESM1_ESM.pdf

Identification and genotype/phenotype correlation of mutations in a large German cohort with hearing loss.

Beck C et al.

European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 2015

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 838.321

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."