Varaico: Literature-Extracted Genetic Variants

Gene:DSP
Variant:p.Q273fs
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DSP

NM_004415.4:p.Q273fs

Associated Papers

Loss-of-function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype.

Maruthappu T et al.

The British Journal of Dermatology, 2019

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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."