Varaico: Literature-Extracted Genetic Variants

Gene:GJB3
Variant:p.P171insFs
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GJB3

NM_024009.3:p.P171insFs

Associated Papers

Genotype Characteristics and Hearing Phenotype Analysis of Newborns with Biallelic GJB2 Mutations: A 652-Case-Cohort Study.

Li J et al.

International Journal of Neonatal Screening, 2025

Gene mutation analysis and genetic counseling for patients with non-syndromic hearing loss in Linyi region.

Li H et al.

Experimental and Therapeutic Medicine, 2019

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

Chen K et al.

Journal of Clinical Laboratory Analysis, 2018

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."