Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.I121delFs
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GJB2

NM_004004.6:p.I121delFs

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

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

Ghasemnejad T et al.

International Journal of Pediatric Otorhinolaryngology, 2017

A novel compound heterozygous mutation (35delG, 363delC) in the Connexin 26 gene causes non-syndromic autosomal recessive hearing loss.

Onsori H et al.

Acta Medica Iranica, 2014

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

Mahdieh N et al.

Journal of Human Genetics, 2010

GJB2 mutations: passage through Iran.

Najmabadi H et al.

American Journal of Medical Genetics. Part A, 2005

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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."