Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.R104_K108delFs
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GJB2

NM_004004.6:p.R104_K108delFs

Associated Papers

The Importance of Newborn Genetic Screening for Early Identification of GJB2 and SLC26A4 Related Hearing Loss.

Wener ER et al.

Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-head and Neck Surgery, 2025

Variants in Genes Associated with Hearing Loss in Children: Prevalence in a Large Canadian Cohort.

Wener ER et al.

The Laryngoscope, 2024

[The mutation spectrum of the GJB2 gene in Belarussian patients with hearing loss. Results of pilot genetic screening of hearing impairment in newborns].

Bliznets EA et al.

Genetika, 2014

Genotype-phenotype correlation of two prevalent GJB2 mutations in Chinese newborn infants ascertained from the Universal Newborn Hearing Screening Program.

Ma Y et al.

American Journal of Medical Genetics. Part A, 2010

GJB2 mutations and genotype-phenotype correlation in 335 patients from germany with nonsyndromic sensorineural hearing loss: evidence for additional recessive mutations not detected by current methods.

Bartsch O et al.

Audiology & Neuro-otology, 2010

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

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."