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Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes

SIMPLE SUMMARY: There is a significant percentage of hereditary breast and ovarian cancer (HBOC) cases that remain undiagnosed, because no pathogenic variant is detected through massively parallel sequencing of coding exons and exon-intron boundaries of high-moderate susceptibility risk genes. Deep...

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Detalhes bibliográficos
Publicado no:Cancers (Basel)
Main Authors: Moles-Fernández, Alejandro, Domènech-Vivó, Joanna, Tenés, Anna, Balmaña, Judith, Diez, Orland, Gutiérrez-Enríquez, Sara
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2021
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8268271/
https://ncbi.nlm.nih.gov/pubmed/34283047
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/cancers13133341
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