Varaico: Literature-Extracted Genetic Variants

Gene:TJP1
Variant:p.R265W
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TJP1

NM_001330239.4:p.R265W

Associated Papers

Comprehensive Analysis of Human Colorectal Cancers Harboring Polymerase Epsilon Mutations.

Gibson LM et al.

International Journal of Molecular Sciences, 2025

40806338 (PubMed )
Supplement: ijms-26-07208-s001.zip › Table_S5.xlsx › Non-driver

Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review.

Micolonghi C et al.

International Journal of Molecular Sciences, 2024

A Comprehensive Analysis of Non-Desmosomal Rare Genetic Variants in Arrhythmogenic Cardiomyopathy: Integrating in Padua Cohort Literature-Derived Data.

Bueno Marinas M et al.

International Journal of Molecular Sciences, 2024

International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework.

James CA et al.

Circulation. Genomic and Precision Medicine, 2021

33831308 (PubMed )
Supplement: hcg-14-e003273-s001.pdf

Whole-Exome Sequencing Identifies Pathogenic Variants in TJP1 Gene Associated With Arrhythmogenic Cardiomyopathy.

De Bortoli M et al.

Circulation. Genomic and Precision Medicine, 2018

TJP1 Mutations in Arrhythmogenic Cardiomyopathy.

Roberts JD

Circulation. Genomic and Precision Medicine, 2018

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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."