RNA Sequencing for Elucidating an Intronic Variant of Uncertain Significance ( SDHD c.314+3A>T) in Splicing Site Consensus Sequences

참고문헌 (10)

1. Wai HA, "Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance", Genet Med, 22, pp.1005~1014 (2020)
2. López-Bigas N, "Are splicing mutations the most frequent cause of hereditary disease?", FEBS Lett, 579, pp.1900~1903 (2005)
3. Richards S, "Standards and guidelines for the interpretation of sequence variants : a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology", Genet Med, 17, pp.405~424 (2015)
4. Lewandowska MA, "The missing puzzle piece : splicing mutations", Int J Clin Exp Pathol, 6, pp.2675~2682 (2013)
5. Moles-Fernández A, "Computational tools for splicing defect prediction in breast", ovarian cancer genes : how efficient are they at predicting RNA alterations?, 2018, pp.9, 366~
6. Thanaraj TA, "Human GC-AG alternative intron isoforms with weak donor sites show enhanced consensus at acceptor exon positions", Nucleic Acids Res, 29, pp.2581~2593 (2001)
7. Bonnal SC, "Roles and mechanisms of alternative splicing in cancer-implications for care", Nat Rev Clin Oncol, 17, pp.457~474 (2020)
8. Casadei S, "Characterization of splice-altering mutations in inherited predisposition to cancer", Proc Natl Acad Sci USA, 116, pp.26798~26807 (2019)
9. Lord J, "Pathogenicity and selective constraint on variation near splice sites", Genome Res, 29, pp.159~170 (2019)
10. Truty R, "Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation", Am J Hum Genet, 108, pp.696~708 (2021)

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