Varaico: Literature-Extracted Genetic Variants

Gene:DSC2
Variant:p.A897fs
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DSC2

NM_024422.6:p.A897fs

Associated Papers

Common origin and somatic mutation patterns of composite lymphomas and leukemias.

Berg V et al.

Leukemia, 2025

40404986 (PubMed )
Supplement: 41375_2025_2549_MOESM2_ESM.xlsx › 4_FL

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

Towards a Better Understanding of Genotype-Phenotype Correlations and Therapeutic Targets for Cardiocutaneous Genes: The Importance of Functional Studies above Prediction.

Vermeer MCSC et al.

International Journal of Molecular Sciences, 2022

Validation and Utilization of a Clinical Next-Generation Sequencing Panel for Selected Cardiovascular Disorders.

Celestino-Soper PB et al.

Frontiers in Cardiovascular Medicine, 2017

28361054 (PubMed )
Supplement: Table_1.XLSX › S8

Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis.

Spier I et al.

Familial Cancer, 2016

Homozygous Desmocollin-2 Mutations and Arrhythmogenic Cardiomyopathy.

Lorenzon A et al.

The American Journal of Cardiology, 2015

Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.

Foley SB et al.

Ebiomedicine, 2015

26023681 (PubMed )
Supplement: mmc1.pdf

Identification of Medically Actionable Secondary Findings in the 1000 Genomes.

Olfson E et al.

Plos One, 2015

26332594 (PubMed )
Supplement: pone.0135193.s002.xls › Sheet1

De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy.

Klauke B et al.

Human Molecular Genetics, 2010

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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."