Varaico: Literature-Extracted Genetic Variants

Gene:NIPBL
Variant:p.E831fs
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NIPBL

NM_133433.4:p.E831fs

Associated Papers

Analysis of clinical and genetic characteristics in 10 Chinese individuals with Cornelia de Lange syndrome and literature review.

Liu C et al.

Molecular Genetics & Genomic Medicine, 2020

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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."