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Transcript analysis for variant classification resolution in a child with primary ciliary dyskinesia
Autor:
Alexander Ing, Erica Toledo, Theresa A. Laguna, Joel Charrow, Victoria R. Sanders, Kristina Firestein, Mary Kate McIntyre, Sabah Kadri, Dawn A. Kirschmann, Alissa Wlodaver, Joanne Salazar, Kai Lee Yap, Christopher McCabe
Publikováno v:
Cold Spring Harbor Molecular Case Studies
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 a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::745b8aac22eb901913f9dc5373f9274e
http://europepmc.org/articles/PMC7903884
http://europepmc.org/articles/PMC7903884
