TY  - JOUR 
AU  - Montalban, Gemma
AU  - Fraile-Bethencourt, Eugenia
AU  - López-Perolio, Irene
AU  - Pérez-Segura, Pedro
AU  - Infante, Mar
AU  - Durán, Mercedes
AU  - Alonso-Cerezo, María Concepción
AU  - López-Fernández, Adrià
AU  - Diez, Orland
AU  - de la Hoya, Miguel
AU  - Velasco, Eladio A.
AU  - Gutiérrez-Enríquez, Sara
PY  - 2018
SN  - 1059-7794
UR  - https://uvadoc.uva.es/handle/10324/64447
AB  - Many BRCA1 and BRCA2 (BRCA1/2) genetic variants have been studied at mRNA level and linked to hereditary breast and ovarian cancer due to splicing alteration. In silico tools are reliable when assessing variants located in consensus splice sites, but...
LA  - eng
PB  - Wiley-VCH
TI  - Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing:BRCA2c.7976+5G > T as a case study
DO  - 10.1002/humu.23583
ER  -