Varaico: Literature-Extracted Genetic Variants

Gene:DYRK1A
Variant:p.R550H
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DYRK1A

NM_001347721.2:p.R550H

Associated Papers

Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene.

Irving MD et al.

American Journal of Medical Genetics. Part A, 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."