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
34326454 (PubMed )
Supplement: 41598_2021_94958_MOESM1_ESM.pdf
Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with Cornelia de Lange syndrome.
Teresa-Rodrigo ME et al.
International Journal of Molecular Sciences, 2014
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