Varaico: Literature-Extracted Genetic Variants

Gene:NIPBL
Variant:p.H2292insFs
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NIPBL

NM_133433.4:p.H2292insFs

Associated Papers

Mutational and genotype-phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome.

Yan J et al.

American Journal of Medical Genetics. Part A, 2006

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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."