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VIsoQLR: an interactive tool for the detection, quantification and fine-tuning of isoforms in selected genes using long-read sequencing

DNA variants altering the pre-mRNA splicing process represent an underestimated cause of human genetic diseases. Their association with disease traits should be confirmed using functional assays from patient cell lines or alternative models to detect aberrant mRNAs. Long-read sequencing is a suitabl...

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Detalles Bibliográficos
Autores principales:	Núñez-Moreno, Gonzalo, Tamayo, Alejandra, Ruiz-Sánchez, Carolina, Cortón, Marta, Mínguez, Pablo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer Berlin Heidelberg 2023
Materias:	Original Investigation
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10060319/ https://www.ncbi.nlm.nih.gov/pubmed/36881176 http://dx.doi.org/10.1007/s00439-023-02539-z

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