Varaico: Literature-Extracted Genetic Variants

Gene:JUP
Variant:p.S225L
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JUP

NM_002230.4:p.S225L

Associated Papers

Cardiomyopathy diagnosed in the eldest child harbouring p.S24X mutation in JUP.

Boente Mdel C et al.

The British Journal of Dermatology, 2016

Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy.

Christensen AH et al.

Journal of Medical Genetics, 2010

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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."