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Hybrid Minigene Assay: An Efficient Tool to Characterize mRNA Splicing Profiles of NF1 Variants

SIMPLE SUMMARY: Heterozygous inactivating mutations in NF1 cause neurofibromatosis type 1, an autosomal dominant neurocutaneous disorder that shows variable clinical expressivity. Mutational spectrum is wide with a proportion of variants acting on splicing. Molecular diagnosis mostly relies on a com...

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Detalles Bibliográficos
Autores principales:	Morbidoni, Valeria, Baschiera, Elisa, Forzan, Monica, Fumini, Valentina, Ali, Dario Seif, Giorgi, Gianpietro, Buson, Lisa, Desbats, Maria Andrea, Cassina, Matteo, Clementi, Maurizio, Salviati, Leonardo, Trevisson, Eva
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7957615/ https://www.ncbi.nlm.nih.gov/pubmed/33673681 http://dx.doi.org/10.3390/cancers13050999

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