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2022
Mark Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants : Application of a points-based ACMG/AMP approach
Thomassen, Mads ; Mesman, Romy L.S. ; Hansen, Thomas V.O. ; Menendez, Mireia ; Rossing, Maria ; Esteban-Sánchez, Ada ; Tudini, Emma ; Törngren, Therese ^LU ; Parsons, Michael T. and Pedersen, Inge S. , et al. (2022) In Human Mutation 43(12). p.1921-1944
- Contribution to journal › Article
2018
Mark Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes : How Efficient Are They at Predicting RNA Alterations?
Moles-Fernández, Alejandro ; Duran-Lozano, Laura ^LU ; Montalban, Gemma ; Bonache, Sandra ; López-Perolio, Irene ; Menéndez, Mireia ; Santamariña, Marta ; Behar, Raquel ; Blanco, Ana and Carrasco, Estela , et al. (2018) In Frontiers in Genetics 9. p.1-12
- Contribution to journal › Article
2014
Mark DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
Osorio, Ana ; Milne, Roger L ; Kuchenbaecker, Karoline ; Vaclová, Tereza ; Pita, Guillermo ; Alonso, Rosario ; Peterlongo, Paolo ; Blanco, Ignacio ; de la Hoya, Miguel and Duran, Mercedes , et al. (2014) In PLoS Genetics 10(4).
- Contribution to journal › Article

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