Varaico: Literature-Extracted Genetic Variants

Gene:NIPBL
Variant:p.G2273G
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NIPBL

NM_133433.4:p.G2273G

Associated Papers

Case report: A novel heterozygous synonymous variant in deep exon region of NIPBL gene generating a non-canonical splice donor in a patient with cornelia de lange syndrome.

Shi M et al.

Frontiers in Genetics, 2022

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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."