TY  - JOUR 
AU  - Sanoguera-Miralles, Lara
AU  - Valenzuela-Palomo, Alberto
AU  - Bueno-Martínez, Elena
AU  - Esteban-Sánchez, Ada
AU  - Lorca, Víctor
AU  - Llinares-Burguet, Inés
AU  - García-Álvarez, Alicia
AU  - Pérez-Segura, Pedro
AU  - Infante, Mar
AU  - Easton, Douglas F
AU  - Devilee, Peter
AU  - Vreeswijk, Maaike P G
AU  - de la Hoya, Miguel
AU  - Velasco-Sampedro, Eladio A
PY  - 2024
SN  - 0009-9147
UR  - https://uvadoc.uva.es/handle/10324/73288
AB  - Background
Disrupted pre-mRNA splicing is a frequent deleterious mechanism in hereditary cancer. We aimed to functionally analyze candidate spliceogenic variants of the breast cancer susceptibility gene CHEK2 by splicing reporter...
LA  - spa
PB  - Oxford Academic
TI  - Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants
DO  - 10.1093/clinchem/hvad125
ER  -