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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NIPBL

Variant:p.E831_R832del1

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NIPBL

NM_133433.4:p.E831_R832del1

hg38:chr5:36985672 AGCG>A

Associated Papers

SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome.

Liu J et al.

Human Mutation, 2009

19701948 (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."