Varaico: Literature-Extracted Genetic Variants

Gene:NIPBL
Variant:p.L1546delFs
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NIPBL

NM_133433.4:p.L1546delFs

Associated Papers

Molecular confirmation of nine cases of Cornelia de Lange syndrome diagnosed prenatally.

Dempsey MA et al.

Prenatal Diagnosis, 2014

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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."