Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.P175H
Back to variants list

GJB2

NM_004004.6:p.P175H

Associated Papers

Natural history and phenotype-genotype correlations in GJB2-related hearing loss: a systematic and comprehensive review.

Chen L et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2026

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.

Functional Consequences of Pathogenic Variants of the GJB2 Gene (Cx26) Localized in Different Cx26 Domains.

Posukh OL et al.

Biomolecules, 2023

A novel dominant GJB2 (DFNA3) mutation in a Chinese family.

Wang H et al.

Scientific Reports, 2017

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."