Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.R143L
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GJB2

NM_004004.6:p.R143L

Associated Papers

Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.

Mao L et al.

Biology, 2023

37106706 (PubMed )
Supplement: biology-12-00505-s001.zip › biology-2074814-supplementary.xlsx › Table_S1

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_MOESM2_ESM.xlsx › Feuil1

Bioinformatic Analysis of GJB2 Gene Missense Mutations.

Yilmaz A

Cell Biochemistry and Biophysics, 2015

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."