Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.E147*
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GJB2

NM_004004.6:p.E147*

Associated Papers

Simulation-predicted and -explained inheritance model of pathogenicity confirmed by transgenic mice models.

Tsai CY et al.

Computational and Structural Biotechnology Journal, 2023

38074473 (PubMed )
Supplement: mmc1.docx

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

Ghasemnejad T et al.

International Journal of Pediatric Otorhinolaryngology, 2017

Spectrum and frequency of GJB2 mutations causing deafness in the northwest of Iran.

Bonyadi MJ et al.

International Journal of Pediatric Otorhinolaryngology, 2014

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

Diverse deafness mechanisms of connexin mutations revealed by studies using in vitro approaches and mouse models.

Hoang Dinh E et al.

Brain Research, 2009

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

Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up.

Gardner P et al.

Pediatrics, 2006

Guidelines and recommendations for testing of Cx26 mutations and interpretation of results.

Mazzoli M et al.

International Journal of Pediatric Otorhinolaryngology, 2004

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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."