Varaico: Literature-Extracted Genetic Variants

Gene:DSP
Variant:p.K2103E
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DSP

NM_004415.4:p.K2103E

Associated Papers

Missense Mutations in Desmoplakin Plakin Repeat Domains Have Dramatic Effects on Domain Structure and Function.

Mohammed F et al.

International Journal of Molecular Sciences, 2022

Sudden cardiac arrest in the field in an 18-year-old male athlete with Noonan syndrome: case presentation and 5-year follow-up.

Petrin Z et al.

Cardiology in the Young, 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."