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1.
The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.
Hum Mutat
; 39(5): 729-741, 2018 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-29460995
2.
Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium.
Hum Mol Genet
; 23(14): 3666-80, 2014 Jul 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-24569164
3.
PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo.
Genet Med
; 16(9): 688-94, 2014 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-24556926
4.
A novel BRCA1 splicing variant detected in an early onset triple-negative breast cancer patient additionally carrying a pathogenic variant in ATM: A case report.
Front Oncol
; 13: 1102184, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37025588
5.
Corrigendum: A novel BRCA1 splicing variant detected in an early onset triple-negative breast cancer patient additionally carrying a pathogenic variant in ATM: a case report.
Front Oncol
; 13: 1306238, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37936611
6.
Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance.
Cancers (Basel)
; 11(3)2019 Mar 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30832263
7.
Characterization of an Italian founder mutation in the RING-finger domain of BRCA1.
PLoS One
; 9(2): e86924, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-24516540
8.
Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations.
PLoS One
; 8(2): e57173, 2013.
Artículo
en Inglés
| MEDLINE | ID: mdl-23451180
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