Varaico: Literature-Extracted Genetic Variants

Gene:JUP
Variant:p.R203H
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JUP

NM_002230.4:p.R203H

Associated Papers

Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form-associated genes provides new insights for molecular diagnosis and clinical management.

Goudal A et al.

Human Mutation, 2022

35819174 (PubMed )
Supplement: HUMU-43-1333-s001.pdf

Variant interpretation in molecular autopsy: a useful dilemma.

Scheiper-Welling S et al.

International Journal of Legal Medicine, 2022

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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."