Varaico: Literature-Extracted Genetic Variants

Gene:DSP
Variant:p.L1654P
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DSP

NM_004415.4:p.L1654P

Associated Papers

Missense variants in the spectrin repeat domain of DSP are associated with arrhythmogenic cardiomyopathy: A family report and systematic review.

Grondin S et al.

American Journal of Medical Genetics. Part A, 2020

Identification and characterization of DSPIa, a novel isoform of human desmoplakin.

Cabral RM et al.

Cell and Tissue Research, 2010

Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy.

Xu T et al.

Journal of the American College of Cardiology, 2010

Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia.

Bauce B et al.

Heart Rhythm, 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."