Varaico: Literature-Extracted Genetic Variants

Gene:DDX23
Variant:p.R542H
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DDX23

NM_004818.3:p.R542H

Associated Papers

Syndromic neurodevelopmental disorder associated with de novo variants in DDX23.

Burns W et al.

American Journal of Medical Genetics. Part A, 2021

Cornelia de Lange Syndrome as Paradigm of Chromatinopathies.

Parenti I et al.

Frontiers in Neuroscience, 2021

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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."