Varaico: Literature-Extracted Genetic Variants

Gene:NIPBL
Variant:p.P711S
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NIPBL

NM_133433.4:p.P711S

Associated Papers

Genetic and epigenetic stability of oligodendrogliomas at recurrence.

Aihara K et al.

Acta Neuropathologica Communications, 2017

28270234 (PubMed )
Supplement: 40478_2017_422_MOESM1_ESM.xlsx › 3_Mutations

SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome.

Liu J et al.

Human Mutation, 2009

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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."