Varaico: Literature-Extracted Genetic Variants

Gene:RAD21
Variant:p.G92Splc
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RAD21

NM_006265.3:p.G92Splc

Associated Papers

Resource: A compendium of HLA types and expression in pediatric cancer models.

Guan Y et al.

Iscience, 2025

41312385 (PubMed )
Supplement: mmc4.xlsx › S3.2_pVACsplice

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

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

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

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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."