Varaico: Literature-Extracted Genetic Variants

Gene:NIPBL
Variant:p.Q2232*
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NIPBL

NM_133433.4:p.Q2232*

Associated Papers

A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome.

Nizon M et al.

Clinical Genetics, 2016

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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."