Varaico: Literature-Extracted Genetic Variants

Gene:SMC3
Variant:p.R236P
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SMC3

NM_005445.4:p.R236P

Associated Papers

A Chinese Case of Cornelia de Lange Syndrome Caused by a Pathogenic Variant in SMC3 and a Literature Review.

Li R et al.

Frontiers in Endocrinology, 2021

Identification of a region in the coiled-coil domain of Smc3 that is essential for cohesin activity.

Orgil O et al.

Nucleic Acids Research, 2016

De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.

Gil-Rodríguez MC et al.

Human Mutation, 2015

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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."