Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics
Reference49 articles.
1. RNA mis-splicing in disease;Scotti;Nat. Rev. Genet.,2016
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3. Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium;Colombo;Hum. Mol. Genet.,2014
4. Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes;Brandão;Int. J. Cancer,2019
5. Functional RNA Studies Are a Useful Tool in Variant Classification but Must Be Used With Caution: A Case Study of One BRCA2 Variant;Nix;JCO Precision Oncology,2020
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