Varaico: Literature-Extracted Genetic Variants

Gene:NIPBL
Variant:p.S943delFs
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NIPBL

NM_133433.4:p.S943delFs

Associated Papers

Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood.

Latorre-Pellicer A et al.

Scientific Reports, 2021

Cornelia de Lange syndrome.

Boyle MI et al.

Clinical Genetics, 2015

High rate of mosaicism in individuals with Cornelia de Lange syndrome.

Huisman SA et al.

Journal of Medical Genetics, 2013

Somatic mosaicism in Cornelia de Lange syndrome: a further contributor to the wide clinical expressivity?

Castronovo P et al.

Clinical Genetics, 2010

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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."