Varaico: Literature-Extracted Genetic Variants

Gene:NIPBL
Variant:p.P791delFs
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NIPBL

NM_133433.4:p.P791delFs

Associated Papers

Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome.

Castronovo P et al.

Chromosome Research : an International Journal on the Molecular, Supramolecular and Evolutionary Aspects of Chromosome Biology, 2009

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

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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."