How to read variant information in the rare diseases test reports…
Identification of the most common BRCA alterations through analysis of germline mutation databases: Is droplet digital PCR an additional strategy for the assessment of such alterations in breast and ovarian cancer families?
Computational and Structural Analysis to Assess the Pathogenicity of Bardet-Biedl Syndrome Related Missense Variants Identified in Bardet-Biedl Syndrome 10 Gene (BBS10) | ACS Omega
Absence of BRCA/FMR1 Correlations in Women with Ovarian Cancers | PLOS ONE
Capturing all disease-causing mutations for clinical and research use: Toward an effortless system for the Human Variome Project - Genetics in Medicine
Novel variants of uncertain clinical significance (VUS) in Greek... | Download Table
Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilate
Common mutation types of BRCA1 or BRCA2 genes in the BIC database. | Download Scientific Diagram
Frontiers | Minigene Splicing Assays Identify 12 Spliceogenic Variants of BRCA2 Exons 14 and 15
Frameshift mutations detected in BRCA genes | Download Table
The occurrence of germline BRCA1 and BRCA2 sequence alterations in Slovenian population – topic of research paper in Biological sciences. Download scholarly article PDF and read for free on CyberLeninka open science
How to read variant information in the rare diseases test reports…
dbBRCA-Asian
A computational model for classification of BRCA2 variants using mouse embryonic stem cell-based functional assays | npj Genomic Medicine
Germ line BRCA2 pathogenic mutations in breast and ovarian cancer... | Download Table
Prevalence and spectrum of BRCA germline variants in mainland Chinese familial breast and ovarian cancer patients | Oncotarget
Spectrum of the Mutations in <fc>B</fc>ernard–<fc>S</fc>oulier Syndrome
The Breast Cancer Information Core: Database design, structure, and scope - Szabo - 2000 - Human Mutation - Wiley Online Library
My Mutation
Comprehensive profiling of BRCA1 and BRCA2 variants in breast and ovarian cancer in Chinese patients - Gao - 2020 - Human Mutation - Wiley Online Library
![PDF] The Clinical Significance of Unknown Sequence Variants in BRCA Genes | Semantic Scholar](https://d3i71xaburhd42.cloudfront.net/bf87f5f3d03688219adbdb700c61ca774b46789f/2-Table1-1.png "PDF] The Clinical Significance of Unknown Sequence Variants in BRCA Genes | Semantic Scholar")
PDF] The Clinical Significance of Unknown Sequence Variants in BRCA Genes | Semantic Scholar
Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance | npj Genomic Medicine
Cancers | Free Full-Text | 5′ Region Large Genomic Rearrangements in the BRCA1 Gene in French Families: Identification of a Tandem Triplication and Nine Distinct Deletions with Five Recurrent Breakpoints
How to read variant information in the rare diseases test reports…
