Varaico: Literature-Extracted Genetic Variants

Gene:NIPBL
Variant:p.R827delFs
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NIPBL

NM_133433.4:p.R827delFs

Associated Papers

Fetal phenotype of Cornelia de Lange syndrome with a molecular confirmation.

Yu QX et al.

European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2023

Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome.

Mei L et al.

Gene, 2015

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

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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."