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Assessing the Impact of Novel <i>BRCA1</i> Exon 11 Variants on Pre-mRNA Splicing

Our study focused on assessing the effects of three newly identified BRCA1 exon 11 variants (c.1019T>C, c.2363T>G, and c.3192T>C) on breast cancer susceptibility. Using computational predictions and experimental splicing assays, we evaluated their potential as pathogenic mutations. Our in silico ana...

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Autori principali: Halla Elshwekh, Inas M. Alhudiri, Adam Elzagheid, Nabil Enattah, Yasmine Abbassi, Lubna Abou Assali, Ilenia Marino, Cristiana Stuani, Emanuele Buratti, Maurizio Romano
Natura: Artigo
Lingua:Inglês
Pubblicazione: MDPI AG 2024-05-01
Serie:Cells
Soggetti:
<i>BRCA1</i>
exon 11
breast cancer
germline mutations
splicing
loss of heterozygosity
Accesso online:https://www.mdpi.com/2073-4409/13/10/824
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