Varaico: Literature-Extracted Genetic Variants

Gene:RAD21
Variant:p.S198fs
Back to variants list

RAD21

NM_006265.3:p.S198fs

Associated Papers

CTCF/RAD21 organize the ground state of chromatin-nuclear speckle association.

Yu R et al.

Nature Structural & Molecular Biology, 2025

Clinical Characteristics, Genetic Analysis, and Literature Review of Cornelia de Lange Syndrome Type 4 Associated With a RAD21 Variant.

Yue X et al.

Molecular Genetics & Genomic Medicine, 2024

CTCF/cohesin organize the ground state of chromatin-nuclear speckle association.

Yu R et al.

Biorxiv : the Preprint Server for Biology, 2023

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

Krab LC et al.

Human Genetics, 2020

Cohesin complex-associated holoprosencephaly.

Kruszka P et al.

Brain : a Journal of Neurology, 2019

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

A novel RAD21 variant associated with intrafamilial phenotypic variation in Cornelia de Lange syndrome - review of the literature.

Boyle MI et al.

Clinical Genetics, 2017

Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case.

Minor A et al.

Gene, 2014

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."