Varaico: Literature-Extracted Genetic Variants

Gene:DSP
Variant:p.R1736_G1737delFs
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DSP

NM_004415.4:p.R1736_G1737delFs

Associated Papers

Variant NAXOS-Carvajal Syndrome with Rare Additional Features of Systemic Bulla and Brittle Nails: A Case Report and Literature Review.

Sato T et al.

Internal Medicine (tokyo, Japan), 2021

Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.

van Waning JI et al.

Journal of the American Heart Association, 2019

Role of desmoplakin mutations in the pathogenesis of non-compaction.

Finsterer J et al.

Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2015

Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma.

Williams T et al.

Clinical Research in Cardiology : Official Journal of the German Cardiac Society, 2011

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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."