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FexSplice: A LightGBM-Based Model for Predicting the Splicing Effect of a Single Nucleotide Variant Affecting the First Nucleotide G of an Exon

Single nucleotide variants (SNVs) affecting the first nucleotide G of an exon (Fex-SNVs) identified in various diseases are mostly recognized as missense or nonsense variants. Their effect on pre-mRNA splicing has been seldom analyzed, and no curated database is available. We previously reported tha...

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Detalles Bibliográficos
Autores principales:	Joudaki, Atefeh, Takeda, Jun-ichi, Masuda, Akio, Ode, Rikumo, Fujiwara, Koichi, Ohno, Kinji
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10531444/ https://www.ncbi.nlm.nih.gov/pubmed/37761905 http://dx.doi.org/10.3390/genes14091765

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