Varaico: Literature-Extracted Genetic Variants

Gene:NIPBL
Variant:p.R1789G
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NIPBL

NM_133433.4:p.R1789G

Associated Papers

Cohesins: Crossroad Between Cornelia de Lange Spectrum and Cancer Predisposition.

Rigotti L et al.

American Journal of Medical Genetics. Part A, 2025

Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.

Mannini L et al.

Human Mutation, 2013

Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey.

Rohatgi S et al.

American Journal of Medical Genetics. Part A, 2010

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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."