Identification of Spliceogenic Variants beyond Canonical GT-AG Splice Sites in Hereditary Cancer Genes

Pathogenic/likely pathogenic variants in susceptibility genes that interrupt RNA splicing are a well-documented mechanism of hereditary cancer syndromes development. However, if RNA studies are not performed, most of the variants beyond the canonical GT-AG splice site are characterized as variants o...

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Detalles Bibliográficos
Autores principales: Dragoš, Vita Šetrajčič, Strojnik, Ksenija, Klančar, Gašper, Škerl, Petra, Stegel, Vida, Blatnik, Ana, Banjac, Marta, Krajc, Mateja, Novaković, Srdjan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9267136/
https://www.ncbi.nlm.nih.gov/pubmed/35806449
http://dx.doi.org/10.3390/ijms23137446

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9267136/
https://www.ncbi.nlm.nih.gov/pubmed/35806449
http://dx.doi.org/10.3390/ijms23137446

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