Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.E110delFs
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GJB2

NM_004004.6:p.E110delFs

Associated Papers

Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.

Ayoub C et al.

Human Genomics, 2025

41430327 (PubMed )
Supplement: 40246_2025_891_MOESM1_ESM.xlsx › Supplementary_Table_S2.

Reporting the presence of three different diseases causing GJB2 mutations in a consanguineous deaf family.

Davoudi-Dehaghani E et al.

International Journal of Audiology, 2014

Effects of GJB2 genotypes on the audiological phenotype: variability is present for all genotypes.

Hişmi BO et al.

International Journal of Pediatric Otorhinolaryngology, 2006

GJB2 mutations and degree of hearing loss: a multicenter study.

Snoeckx RL et al.

American Journal of Human Genetics, 2005

Evidence for single origins of 35delG and delE120 mutations in the GJB2 gene in Anatolia.

Tekin M et al.

Clinical Genetics, 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."