Varaico: Literature-Extracted Genetic Variants

Gene:SPEN
Variant:p.E1449*
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SPEN

NM_015001.3:p.E1449*

Associated Papers

Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.

Coursimault J et al.

Human Mutation, 2022

Characterization of the Genomic Landscape in Cervical Cancer by Next Generation Sequencing.

Qiu L et al.

Genes, 2022

35205332 (PubMed )
Supplement: genes-13-00287-s001.zip › genes-1527502-supplementary.pdf
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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."