Marta
Santamariña Pena
Karolinska University Hospital
Estocolmo, SueciaPublicacións en colaboración con investigadores/as de Karolinska University Hospital (3)
2020
-
Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes
Nature Genetics, Vol. 52, Núm. 1, pp. 56-73
-
The spectrum of fancm protein truncating variants in European breast cancer cases
Cancers, Vol. 12, Núm. 2
2016
-
Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms
Human Molecular Genetics, Vol. 25, Núm. 11, pp. 2256-2268