Varaico: Literature-Extracted Genetic Variants

Gene:DSP
Variant:p.R1775I
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DSP

NM_004415.4:p.R1775I

Associated Papers

Massive Parallel DNA Sequencing of Patients with Inherited Cardiomyopathies in Cyprus and Suggestion of Digenic or Oligogenic Inheritance.

Koutsofti C et al.

Genes, 2024

Remodeling of cell-cell junctions in arrhythmogenic cardiomyopathy.

Asimaki A et al.

Cell Communication & Adhesion, 2014

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

Cabral RM et al.

Cell and Tissue Research, 2010

Unique epidermolytic bullous dermatosis with associated lethal cardiomyopathy related to novel desmoplakin mutations.

Asimaki A et al.

Journal of Cutaneous Pathology, 2009

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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."