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Article

Transcript analysis for variant classification resolution in a child with primary ciliary dyskinesia.

Cold Spring Harbor molecular case studies - 1 Feb 2021

Ing Alexander, Wlodaver Alissa, Kirschmann Dawn, Toledo Erica, McCabe Christopher, Kadri Sabah, McIntyre Mary Kate, Salazar Joanne, Firestein Kristina, Charrow Joel, Sanders Victoria, Laguna Theresa, Yap Kai Lee

Abstract excerpt

Transcriptional analysis can be utilized to reconcile variants of uncertain significance, particularly those predicted to impact splicing. Laboratory analysis of the predicted mRNA transcript may allow inference of the in vivo impact of the variant and aid prediction of its clinical significance. We present a patient with classical features of primary ciliary dyskinesia (PCD) who was identified to have compound...

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PMID: 33608380
DOI: 10.1101/mcs.a005363
PMCID: PMC7903884

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