Varaico: Literature-Extracted Genetic Variants

Gene:PKP2
Variant:p.S329fs
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PKP2

NM_001005242.3:p.S329fs

Associated Papers

A Systematic Analysis of the Clinical Outcome Associated with Multiple Reclassified Desmosomal Gene Variants in Arrhythmogenic Right Ventricular Cardiomyopathy Patients.

Nagyova E et al.

Journal of Cardiovascular Translational Research, 2023

37418234 (PubMed )
Supplement: 12265_2023_10403_MOESM6_ESM.xlsx › Multiple_mutations

Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form-associated genes provides new insights for molecular diagnosis and clinical management.

Goudal A et al.

Human Mutation, 2022

35819174 (PubMed )
Supplement: HUMU-43-1333-s001.pdf

Molecular Diagnosis of Primary Cardiomyopathy in 231 Unrelated Pediatric Cases by Panel-Based Next-Generation Sequencing: A Major Focus on Five Carriers of Biallelic TNNI3 Pathogenic Variants.

Janin A et al.

Molecular Diagnosis & Therapy, 2022

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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."