Varaico: Literature-Extracted Genetic Variants

Gene:RAD21
Variant:p.Q592del1
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RAD21

NM_006265.3:p.Q592del1

Associated Papers

Genetically induced redox stress occurs in a yeast model for Roberts syndrome.

Mfarej MG et al.

G3 (bethesda, Md.), 2022

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21.

Krab LC et al.

Human Genetics, 2020

A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.

Gudmundsson S et al.

European Journal of Medical Genetics, 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."