Varaico: Literature-Extracted Genetic Variants

Gene:NIPBL
Variant:p.R1474S
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NIPBL

NM_133433.4:p.R1474S

Associated Papers

De novo NIPBL Mutations in Vietnamese Patients with Cornelia de Lange Syndrome.

Thanh DC et al.

Medicina (kaunas, Lithuania), 2020

Development of NIPBL locus-specific database using LOVD: from novel mutations to further genotype-phenotype correlations in Cornelia de Lange Syndrome.

Oliveira J et al.

Human Mutation, 2010

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

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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."