Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.N346fs
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PKP2

NM_001005242.3:p.N346fs

Associated Papers

Advances in arrhythmogenic cardiomyopathy modeling using human-induced pluripotent stem cell-based models.

Mostert D et al.

Heart Rhythm, 2025

Clinical Relevance of the Systematic Analysis of Copy Number Variants in the Genetic Study of Cardiomyopathies.

de Uña-Iglesias D et al.

Genes, 2024

38927710 (PubMed )
Supplement: genes-15-00774-s001.zip › genes-3035211-supplementary.pdf

Modeling incomplete penetrance in arrhythmogenic cardiomyopathy by human induced pluripotent stem cell derived cardiomyocytes.

De Bortoli M et al.

Computational and Structural Biotechnology Journal, 2023

Oxidized LDL-dependent pathway as new pathogenic trigger in arrhythmogenic cardiomyopathy.

Sommariva E et al.

Embo Molecular Medicine, 2021

Generation and characterization of three human induced pluripotent stem cell lines (EURACi007-A, EURACi008-A, EURACi009-A) from three different individuals of the same family with arrhythmogenic cardiomyopathy (ACM) carrying the plakophillin2 p.N346Lfs*12 mutation.

Meraviglia V et al.

Stem Cell Research, 2021

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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."