Varaico: Literature-Extracted Genetic Variants

Gene:NIPBL
Variant:p.S780F
Back to variants list

NIPBL

NM_133433.4:p.S780F

Associated Papers

Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation.

Selicorni A et al.

Clinical Genetics, 2007

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."