Varaico: Literature-Extracted Genetic Variants

Gene:NIPBL
Variant:p.S1459*
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NIPBL

NM_133433.4:p.S1459*

Associated Papers

Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome.

Kaur M et al.

American Journal of Medical Genetics. Part A, 2005

Chromosome rearrangements in cornelia de Lange syndrome (CdLS): report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements.

DeScipio C et al.

American Journal of Medical Genetics. Part A, 2005

NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.

Gillis LA et al.

American Journal of Human Genetics, 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."