Varaico: Literature-Extracted Genetic Variants

Gene:DSP
Variant:p.T2634delFs
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DSP

NM_004415.4:p.T2634delFs

Associated Papers

Autosomal dominant Carvajal plus syndrome due to the novel desmoplakin mutation c.1678A > T (p.Ile560Phe).

Finsterer J et al.

Molecular Genetics and Metabolism Reports, 2016

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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."