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Article

RNA analysis of cancer predisposing genes in formalin-fixed paraffin-embedded tissue determines aberrant splicing.

European journal of human genetics : EJHG - 1 Aug 2018

Jansen Anne Ml, van der Klift Heleen M, Roos Marieke Ae, van Eendenburg Jaap Dh, Tops Carli Mj, Wijnen Juul T, Hes Frederik J, Morreau Hans, van Wezel Tom

Abstract excerpt

High-throughput sequencing efforts in molecular tumour diagnostics detect increasing numbers of novel variants, including variants predicted to affect splicing. In silico prediction tools can reliably predict the effect of variant disrupting canonical splice sites; however, experimental validation is required to confirm aberrant splicing. Here, we present RNA analysis performed for 13 canonical splice site...

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Share to Adenomatous Polyposis Coli Protein
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29706640
DOI: 10.1038/s41431-018-0153-z
PMCID: PMC6057924

Genes

APC
BRCA1
MLH1
MSH2
MSH6

Provenance

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