Varaico: Literature-Extracted Genetic Variants

Gene:DSP
Variant:p.R2229delFs
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DSP

NM_004415.4:p.R2229delFs

Associated Papers

A frameshift variation in the DSP gene causes a novel subtype of atypical epidermolytic palmoplantar keratoderma: Case report.

Lin C et al.

Frontiers in Medicine, 2025

Arrhythmogenic cardiomyopathy as a myogenic disease: highlights from cardiomyocytes derived from human induced pluripotent stem cells.

Reisqs JB et al.

Frontiers in Physiology, 2023

Functional investigation of two simultaneous or separately segregating DSP variants within a single family supports the theory of a dose-dependent disease severity.

Vermeer MCSC et al.

Experimental Dermatology, 2022

Dynamic loading of human engineered heart tissue enhances contractile function and drives a desmosome-linked disease phenotype.

Bliley JM et al.

Science Translational Medicine, 2021

Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.

van Waning JI et al.

Journal of the American Heart Association, 2019

Phospholamban immunostaining is a highly sensitive and specific method for diagnosing phospholamban p.Arg14del cardiomyopathy.

Te Rijdt WP et al.

Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology, 0

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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."