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2022
Mark Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants
Li, H. ; Borg, Åke ^LU and Goldgar, David E. (2022) In Genetics in Medicine 24(1). p.119-129
- Contribution to journal › Article
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
2020
Mark The spectrum of fancm protein truncating variants in European breast cancer cases
Figlioli, Gisella ; Ehrencrona, Hans ^LU and Peterlongo, Paolo (2020) In Cancers 12(2).
- Contribution to journal › Article