Varaico: Literature-Extracted Genetic Variants

Gene:GJB4
Variant:p.R32C
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GJB4

NM_153212.3:p.R32C

Associated Papers

Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Jia X et al.

Molecular Psychiatry, 2021

33483695 (PubMed )
Supplement: 41380_2020_1006_MOESM2_ESM.xlsx › S2

Germline Mutation Enrichment in Pathways Controlling Endothelial Cell Homeostasis in Patients with Brain Arteriovenous Malformation: Implication for Molecular Diagnosis.

Scimone C et al.

International Journal of Molecular Sciences, 2020

32560555 (PubMed )
Supplement: ijms-21-04321-s001.zip › S2_Selected_Variants.xlsx › AVM1

Understanding of the molecular evolution of deafness-associated pathogenic mutations of connexin 26.

Han XH et al.

Genetica, 2014

Life cycle of connexins in health and disease.

Laird DW

The Biochemical Journal, 2006

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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."