Detalhe da pesquisa
1.
A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: application to BRCA1 and BRCA2.
Hum Mutat
; 20232023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38725546
2.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-29460995