Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes. - Abstract - Europe PMC
Frontiers | Identification of Eight Spliceogenic Variants in BRCA2 Exon 16 by Minigene Assays | Genetics
Functional Assays for Analysis of Variants of Uncertain Significance in BRCA2 - Guidugli - 2014 - Human Mutation - Wiley Online Library
The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries - Laitman - 2019 - Human Mutation - Wiley Online Library
Experimentally observed effects on mRNA splicing of group A variants... | Download Table
GENETIC VARIANTS: SIMPLE ENOUGH FOR MY DAUGHTER'S 4TH GRADE CLASS
Novel variants of uncertain clinical significance (VUS) in Greek... | Download Table
A multi-gene panel study in hereditary breast and ovarian cancer in Colombia | Semantic Scholar
PDF) A Python Package for Parsing, Validating, Mapping, and Formatting Sequence Variants Using HGVS Nomenclature
dbBRCA - Chinese
PDF] The Clinical Significance of Unknown Sequence Variants in BRCA Genes | Semantic Scholar
Frontiers | Minigene Splicing Assays Identify 12 Spliceogenic Variants of BRCA2 Exons 14 and 15 | Genetics
A computational model for classification of BRCA2 variants using mouse embryonic stem cell-based functional assays | npj Genomic Medicine
Identification of BRCA1/2 Founder Mutations in Southern Chinese Breast Cancer Patients Using Gene Sequencing and High Resolution DNA Melting Analysis
Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker - Wildeman - 2008 - Human Mutation - Wiley Online Library
A Reference System for BRCA Mutation Detection Based on Next-Generation Sequencing in the Chinese Population - The Journal of Molecular Diagnostics
Germ line BRCA1 pathogenic mutations in breast and ovarian cancer... | Download Table
Figures and data in Functional and mutational landscapes of BRCA1 for homology-directed repair and therapy resistance | eLife
PDF] Prevalence and Penetrance of BRCA1 and BRCA2 Germline Mutations in Colombian Breast Cancer Patients | Semantic Scholar
PDF] Founder BRCA 1 / 2 mutations in the Europe : implications for hereditary breast-ovarian cancer prevention and control | Semantic Scholar
PDF] Recurrent mutation testing of BRCA1 and BRCA2 in Asian breast cancer patients identify carriers in those with presumed low risk by family history | Semantic Scholar
Prevalence of BRCA1/2 mutations in sporadic breast/ovarian cancer patients and identification of a novel de novo BRCA1 mutation in a patient diagnosed with late onset breast and ovarian cancer: implications for genetic
GENETIC VARIANTS: SIMPLE ENOUGH FOR MY DAUGHTER'S 4TH GRADE CLASS
Genomic Databases: Emerging Tools for Molecular Diagnostics - ScienceDirect
Capturing all disease-causing mutations for clinical and research use: Toward an effortless system for the Human Variome Project - Genetics in Medicine
Common mutation types of BRCA1 or BRCA2 genes in the BIC database. | Download Scientific Diagram