Varaico: Literature-Extracted Genetic Variants

Gene:NIPBL
Variant:p.N2236I
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NIPBL

NM_133433.4:p.N2236I

Associated Papers

PEDIA: prioritization of exome data by image analysis.

Hsieh TC et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

31164752 (PubMed )
Supplement: 41436_2019_566_MOESM2_ESM.xlsx › Sheet1

NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome.

Borck G et al.

Journal of Medical Genetics, 2004

NIPBL gene responsible for Cornelia de Lange syndrome, a severe developmental disorder.

Ben-Asher E et al.

The Israel Medical Association Journal : Imaj, 2004

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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."