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

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2021
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7903884/
https://www.ncbi.nlm.nih.gov/pubmed/33608380
http://dx.doi.org/10.1101/mcs.a005363

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