Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.H16R
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GJB2

NM_004004.6:p.H16R

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

First-Line Molecular Genetic Evaluation of Autosomal Recessive Non-Syndromic Hearing Loss.

Özyılmaz B et al.

Turkish Archives of Otorhinolaryngology, 2019

An update of common autosomal recessive non-syndromic hearing loss genes in Iranian population.

Ghasemnejad T et al.

International Journal of Pediatric Otorhinolaryngology, 2017

Bioinformatic Analysis of GJB2 Gene Missense Mutations.

Yilmaz A

Cell Biochemistry and Biophysics, 2015

Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations.

Mahdieh N et al.

Journal of Human Genetics, 2010

Mutation analysis of familial GJB2-related deafness in Iranian Azeri Turkish patients.

Bonyadi M et al.

Genetic Testing and Molecular Biomarkers, 2009

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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."