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
Frontiers | Identification of Eight Spliceogenic Variants in BRCA2 Exon 16 by Minigene Assays
How to read variant information in the rare diseases test reports…
My Mutation
NGS bioinformatics pipeline—worries and wish lists: A look at the preanalytic, analytic, and postanalytic phases - CAP TODAY
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?
Frontiers | Minigene Splicing Assays Identify 12 Spliceogenic Variants of BRCA2 Exons 14 and 15
PDF] The Clinical Significance of Unknown Sequence Variants in BRCA Genes | Semantic Scholar
Reported prevalence of BRCA1 founder mutations in the Polish population. | Download Scientific Diagram
Cureus | Sociodemographic, Clinical, and Variation Outcomes for Breast Cancer and Breast Cancer-Related Mutations in a Ten-Year Cohort From Neiva, Huila, Colombia | Article
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?
My Mutation
BRCA Exchange
The Breast Cancer Information Core: Database design, structure, and scope - Szabo - 2000 - Human Mutation - Wiley Online Library
BRCA2 variants identified in the analyzed population by dHPLC/Sanger... | Download Table
Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilate
Table 2 from Suggestion of BRCA1 c.5339T>C (p.L1780P) variant confer from 'unknown significance' to 'Likely pathogenic' based on clinical evidence in Korea. | Semantic Scholar
How to read variant information in the rare diseases test reports…
Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance | npj Genomic Medicine
Genes | Free Full-Text | Differences in Ovarian and Other Cancers Risks by Population and BRCA Mutation Location
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…
Common mutation types of BRCA1 or BRCA2 genes in the BIC database. | Download Scientific Diagram
Capturing all disease-causing mutations for clinical and research use: Toward an effortless system for the Human Variome Project - Genetics in Medicine
Reported prevalence of BRCA1 founder mutations in the Polish population. | Download Scientific Diagram
Novel variants of uncertain clinical significance (VUS) in Greek... | Download Table