Varaico: Literature-Extracted Genetic Variants

Gene:NIPBL
Variant:p.D1803V
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NIPBL

NM_133433.4:p.D1803V

Associated Papers

Structure of the cohesin loader Scc2.

Chao WC et al.

Nature Communications, 2017

28059076 (PubMed )
Supplement: ncomms13952-s1.pdf

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

Mannini L et al.

Human Mutation, 2013

NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.

Gillis LA et al.

American Journal of Human Genetics, 2004

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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."