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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NIPBL

Variant:p.A1440_V1441Splc

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NIPBL

NM_133433.4:p.A1440_V1441Splc

hg38:chr5:37008588 T>C

Associated Papers

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

15318302 (PubMed )

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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."