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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NIPBL

Variant:p.M2207T

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NIPBL

NM_133433.4:p.M2207T

hg38:chr5:37048532 T>C

Associated Papers

Ophthalmological findings in Brazilian Cornelia de Lange syndrome patients with NIPBL variants.

Vilella T et al.

Bmc Ophthalmology, 2025

41088053 (PubMed )

Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome.

Aoi H et al.

Journal of Human Genetics, 2019

31337854 (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."