Detalhe da pesquisa
1.
Sequencing of lariat termini in S. cerevisiae reveals 5' splice sites, branch points, and novel splicing events.
RNA
; 22(2): 237-53, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26647463
2.
The DExD/H-box ATPase Prp2p destabilizes and proofreads the catalytic RNA core of the spliceosome.
RNA
; 20(3): 282-94, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24442613
3.
Utility and Outcomes of the 2019 American College of Medical Genetics and Genomics-Clinical Genome Resource Guidelines for Interpretation of Copy Number Variants with Borderline Classifications at an Academic Clinical Diagnostic Laboratory.
J Mol Diagn
; 24(10): 1100-1111, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35868509
4.
Transcript analysis for variant classification resolution in a child with primary ciliary dyskinesia.
Cold Spring Harb Mol Case Stud
; 7(1)2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33608380