Varaico: Literature-Extracted Genetic Variants

Gene:CDH2
Variant:p.D407N
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CDH2

NM_001792.5:p.D407N

Associated Papers

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

Advances in Ion Channel, Non-Desmosomal Variants and Autophagic Mechanisms Implicated in Arrhythmogenic Cardiomyopathy.

Li K et al.

Current Issues in Molecular Biology, 2023

Identification of a novel variant in N-cadherin associated with dilated cardiomyopathy.

Chen Y et al.

Frontiers in Medicine, 2022

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

Left Ventricular Dysfunction in Arrhythmogenic Cardiomyopathy: Association With Exercise Exposure, Genetic Basis, and Prognosis.

Lie ØH et al.

Journal of the American Heart Association, 2021

33821670 (PubMed )
Supplement: JAH3-10-e018680-s001.pdf

Cadherin 2-Related Arrhythmogenic Cardiomyopathy: Prevalence and Clinical Features.

Ghidoni A et al.

Circulation. Genomic and Precision Medicine, 2021

Transitioning the Molecular Tumor Board from Proof of Concept to Clinical Routine: A German Single-Center Analysis.

Hoefflin R et al.

Cancers, 2021

33800365 (PubMed )
Supplement: cancers-13-01151-s001.zip › Supplementary_Data_2.xlsx › Cosmic_Annotated_Mutations

Genetic Animal Models for Arrhythmogenic Cardiomyopathy.

Gerull B et al.

Frontiers in Physiology, 2020

De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.

Accogli A et al.

American Journal of Human Genetics, 2019

Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia: An Updated Review of Diagnosis and Management.

Sattar Y et al.

Cureus, 2019

Intercalated discs: cellular adhesion and signaling in heart health and diseases.

Zhao G et al.

Heart Failure Reviews, 2019

Identification of Cadherin 2 (CDH2) Mutations in Arrhythmogenic Right Ventricular Cardiomyopathy.

Mayosi BM et al.

Circulation. Cardiovascular Genetics, 2017

Whole exome sequencing with genomic triangulation implicates CDH2-encoded N-cadherin as a novel pathogenic substrate for arrhythmogenic cardiomyopathy.

Turkowski KL et al.

Congenital Heart Disease, 2017

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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."