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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NIPBL

Variant:p.M2207I

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NIPBL

NM_133433.4:p.M2207I

hg38:chr5:37048533 G>A

Associated Papers

Cohesins: Crossroad Between Cornelia de Lange Spectrum and Cancer Predisposition.

Rigotti L et al.

American Journal of Medical Genetics. Part A, 2025

40186517 (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."