Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.G160D
Back to variants list

GJB2

NM_004004.6:p.G160D

Associated Papers

Investigation of Targeted Genes and Identification of Novel Variants with Next Generation Sequencing Method in Hearing Loss.

Zhuri D et al.

The Journal of International Advanced Otology, 2024

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

Spectrum of GJB2 mutations in a cohort of nonsyndromic hearing loss cases from the Kingdom of Saudi Arabia.

Al-Qahtani MH et al.

Genetic Testing and Molecular Biomarkers, 2010

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

Azaiez H et al.

Human Mutation, 2004

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."