Varaico: Literature-Extracted Genetic Variants

Gene:GJB4
Variant:p.C169*
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GJB4

NM_153212.3:p.C169*

Associated Papers

Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.

Yin X et al.

Nature Communications, 2025

40044664 (PubMed )
Supplement: 41467_2025_57520_MOESM5_ESM.xlsx › Supplementary_Data_2_Deleteriou

Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden.

Adadey SM et al.

Life (basel, Switzerland), 2020

Association between mutations in the gap junction β4 gene and nonsyndromic hearing loss: genotype-phenotype correlation patterns.

Li TC et al.

Molecular Medicine Reports, 2015

Application of massively parallel sequencing to genetic diagnosis in multiplex families with idiopathic sensorineural hearing impairment.

Wu CC et al.

Plos One, 2013

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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."