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Article

Experimental assessment of splicing variants using expression minigenes and comparison with in silico predictions.

Human mutation - 1 Oct 2014

Sharma Neeraj, Sosnay Patrick R, Ramalho Anabela S, Douville Christopher, Franca Arianna, Gottschalk Laura B, Park Jeenah, Lee Melissa, Vecchio-Pagan Briana, Raraigh Karen S, Amaral Margarida D, Karchin Rachel, Cutting Garry R

Abstract excerpt

Assessment of the functional consequences of variants near splice sites is a major challenge in the diagnostic laboratory. To address this issue, we created expression minigenes (EMGs) to determine the RNA and protein products generated by splice site variants (n = 10) implicated in cystic fibrosis (CF). Experimental results were compared with the splicing predictions of eight in silico tools. EMGs containing the...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 25066652
DOI: 10.1002/humu.22624
PMCID: PMC4425124

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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