TY  - JOUR 
AU  - Brandão, R. D.
AU  - Mensaert, K.
AU  - López-Perolio, I.
AU  - Tserpelis, D.
AU  - Xenakis, M.
AU  - Lattimore, V.
AU  - Walker, L. C.
AU  - Kvist, A.
AU  - Vega Gliemmo, Ana
AU  - Gutiérrez-Enríquez, S.
AU  - Díez, O.
AU  - de la Hoya, M.
AU  - Spurdle, A. B.
AU  - De Meyer, T.
AU  - Blok, M. J.
PY  - 2019
SN  - 0020-7136
UR  - http://hdl.handle.net/20.500.11940/15986
AB  - A subset of genetic variants found through screening of patients with hereditary breast and ovarian cancer syndrome (HBOC) and Lynch syndrome impact RNA splicing. Through target enrichment of the transcriptome, it is possible to perform...
LA  - eng
KW  - Mutation
KW  - DNA-Binding Proteins
KW  - Cell Line
KW  - Humans
KW  - Electrophoresis
KW  - BRCA1 Protein
KW  - RNA Splicing
KW  - Hereditary Breast and Ovarian Cancer Syndrome
KW  - BRCA2 Protein
KW  - Genetic Predisposition to Disease
KW  - Colorectal Neoplasms
KW  - Sequence Analysis
TI  - Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes
DO  - 10.1002/ijc.32114
T2  - INTERNATIONAL JOURNAL OF CANCER
M2  - 401
KW  - FPGMX
VL  - 145
ER  -