Varaico: Literature-Extracted Genetic Variants

Gene:NIPBL
Variant:p.Y1531*
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NIPBL

NM_133433.4:p.Y1531*

Associated Papers

A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination.

Enervald E et al.

The Journal of Experimental Medicine, 2013

Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients.

Schoumans J et al.

European Journal of Human Genetics : Ejhg, 2007

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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."