Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.W44G
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GJB2

NM_004004.6:p.W44G

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

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

Screening of 10 DFNB Loci Causing Autosomal Recessive Non-Syndromic Hearing Loss in Two Iranian Populations Negative for GJB2 Mutations.

Koohiyan M et al.

Iranian Journal of Public Health, 2019

GJB2 mutations causing autosomal recessive non-syndromic hearing loss (ARNSHL) in two Iranian populations: Report of two novel variants.

Koohiyan M et al.

International Journal of Pediatric Otorhinolaryngology, 2018

Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss.

DeMille D et al.

American Journal of Medical Genetics. Part A, 2018

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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."