Varaico: Literature-Extracted Genetic Variants

Gene:NIPBL
Variant:p.L1796insFs
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NIPBL

NM_133433.4:p.L1796insFs

Associated Papers

Phenotypes of Cornelia de Lange syndrome caused by non-cohesion genes: Novel variants and literature review.

Shangguan H et al.

Frontiers in Pediatrics, 2022

35935361 (PubMed )
Supplement: Table_1.XLSX › Table_S3

A Novel Frameshift Mutation (c.5387_5388insTT) in NIPBL in Cornelia de Lange Syndrome with Severe Phenotype.

Kang MJ et al.

Annals of Clinical and Laboratory Science, 2018

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