Varaico: Literature-Extracted Genetic Variants

Gene:DSC1
Variant:p.C848F
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DSC1

NM_024421.2:p.C848F

Associated Papers

Exploring digenic inheritance in arrhythmogenic cardiomyopathy.

König E et al.

Bmc Medical Genetics, 2017

Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin.

McAleer MA et al.

The Journal of Allergy and Clinical Immunology, 2015

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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."