Varaico: Literature-Extracted Genetic Variants

Gene:NIPBL
Variant:p.D730V
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NIPBL

NM_133433.4:p.D730V

Associated Papers

Cohesin proteins promote ribosomal RNA production and protein translation in yeast and human cells.

Bose T et al.

Plos Genetics, 2012

Eco1 is important for DNA damage repair in S. cerevisiae.

Lu S et al.

Cell Cycle (georgetown, Tex.), 2010

Cohesinopathies, gene expression, and chromatin organization.

Bose T et al.

The Journal of Cell Biology, 2010

Cohesinopathy mutations disrupt the subnuclear organization of chromatin.

Gard S et al.

The Journal of Cell Biology, 2009

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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."