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Combined Bioinformatic and Splicing Analysis of Likely Benign Intronic and Synonymous Variants Reveals Evidence for Pathogenicity

BACKGROUND: Current clinical variant analysis pipelines focus on coding variants and intronic variants within 10–20 bases of an exon-intron boundary that may affect splicing. The impact of newer splicing prediction algorithms combined with in vitro splicing assays on rare variants currently consider...

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Detalles Bibliográficos
Autores principales:	Hirschi, Owen R., Felker, Stephanie A., Rednam, Surya P., Vallance, Kelly L., Parsons, D. Williams, Roy, Angshumoy, Cooper, Gregory M., Plon, Sharon E.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cold Spring Harbor Laboratory 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10635218/ https://www.ncbi.nlm.nih.gov/pubmed/37961416 http://dx.doi.org/10.1101/2023.10.30.23297632

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