Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.L90P
Back to variants list

GJA1

NM_000165.5:p.L90P

Associated Papers

Exploring the binding sites of VRT534 at Cx26 as a putative chemical chaperone for targeted treatment of hereditary hearing disorders.

Harre J et al.

Frontiers in Medicine, 2025

Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.

Mao L et al.

Biology, 2023

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

Gap-junction channels dysfunction in deafness and hearing loss.

Martínez AD et al.

Antioxidants & Redox Signaling, 2009

Molecular genetics study of deafness in Brazil: 8-year experience.

de Oliveira CA et al.

American Journal of Medical Genetics. Part A, 2007

GJB2: the spectrum of deafness-causing allele variants and their phenotype.

Azaiez H et al.

Human Mutation, 2004

Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness.

Bruzzone R et al.

Febs Letters, 2003

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."