Varaico: Literature-Extracted Genetic Variants

Gene:GJB6
Variant:p.I171insFs
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GJB6

NM_001110219.3:p.I171insFs

Associated Papers

GJB2-related hearing loss in central Iran: Review of the spectrum and frequency of gene mutations.

Koohiyan M et al.

Annals of Human Genetics, 2020

GJB3/GJB6 screening in GJB2 carriers with idiopathic hearing loss: Is it necessary?

Chen K et al.

Journal of Clinical Laboratory Analysis, 2018

GJB2 allele variants and the associated audiologic features identified in Chinese patients with less severe idiopathic hearing loss.

Zhang J et al.

Genetic Testing and Molecular Biomarkers, 2011

Use of a multiplex PCR/sequencing strategy to detect both connexin 30 (GJB6) 342 kb deletion and connexin 26 (GJB2) mutations in cases of childhood deafness.

Wu BL et al.

American Journal of Medical Genetics. Part A, 2003

Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing.

Wu BL et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0

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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."