Varaico: Literature-Extracted Genetic Variants

Gene:NIPBL
Variant:p.R2298G
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NIPBL

NM_133433.4:p.R2298G

Associated Papers

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

Rigotti L et al.

American Journal of Medical Genetics. Part A, 2025

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.

Kaur M et al.

American Journal of Medical Genetics. Part A, 2023

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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."