Associated Papers
Hereditary breast cancer next-generation sequencing panel evaluation in the south region of Brazil: A novel BRCA2 candidate pathogenic variant is reported.
Duarte CAB et al.
Molecular Genetics & Genomic Medicine, 2024
Hereditary breast cancer next-generation sequencing (NGS) panel evaluation in the south region of Brazil: a novel BRCA2 candidate pathogenic variant is reported.
Duarte CAB et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Tumor sequencing is useful to refine the analysis of germline variants in unexplained high-risk breast cancer families.
Van Marcke C et al.
Breast Cancer Research : Bcr, 2020
32295625 (PubMed )
Supplement: 13058_2020_1273_MOESM1_ESM.xlsx › Table_S2
The Role of Rare Coding Variants in Parkinson's Disease GWAS Loci.
Germer EL et al.
Frontiers in Neurology, 2019
31920912 (PubMed )
Supplement: Data_Sheet_1.pdf
Molecular and clinical evidence for an ARMC5 tumor syndrome: concurrent inactivating germline and somatic mutations are associated with both primary macronodular adrenal hyperplasia and meningioma.
Elbelt U et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
CanDrA: cancer-specific driver missense mutation annotation with optimized features.
Mao Y et al.
Plos One, 2013
24205039 (PubMed )
Supplement: pone.0077945.s001.xls › Table_S2
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