Varaico: Literature-Extracted Genetic Variants

Gene:DSP
Variant:p.G46D
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DSP

NM_004415.4:p.G46D

Associated Papers

Diagnostic yield of genetic testing in heart transplant recipients with prior cardiomyopathy.

Boen HM et al.

The Journal of Heart and Lung Transplantation : the Official Publication of the International Society for Heart Transplantation, 2022

Desmoplakin and periplakin genetically and functionally contribute to eosinophilic esophagitis.

Shoda T et al.

Nature Communications, 2021

Mutated desmoglein-2 proteins are incorporated into desmosomes and exhibit dominant-negative effects in arrhythmogenic right ventricular cardiomyopathy.

Rasmussen TB et al.

Human Mutation, 2013

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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."