Varaico: Literature-Extracted Genetic Variants

Gene:NIPBL
Variant:p.R2298P
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NIPBL

NM_133433.4:p.R2298P

Associated Papers

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

Vilella T et al.

Bmc Ophthalmology, 2025

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.

Kaur M et al.

American Journal of Medical Genetics. Part A, 2023

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