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Splicing annotation of endometrial cancer GWAS risk loci reveals potentially causal variants and supports a role for NF1 and SKAP1 as susceptibility genes

Alternative splicing contributes to cancer development. Indeed, splicing analysis of cancer genome-wide association study (GWAS) risk variants has revealed likely causal variants. To systematically assess GWAS variants for splicing effects, we developed a prioritization workflow using a combination...

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Detalles Bibliográficos
Autores principales: Canson, Daffodil M., O’Mara, Tracy A., Spurdle, Amanda B., Glubb, Dylan M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9996439/
https://www.ncbi.nlm.nih.gov/pubmed/36908940
http://dx.doi.org/10.1016/j.xhgg.2023.100185