Πολύ θυμωμένος Αγριος ειρήνη mutations hgvs bic Πισίνα αντίσταση αναθέτω
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?
Absence of BRCA/FMR1 Correlations in Women with Ovarian Cancers | PLOS ONE
My Mutation
Genes | Free Full-Text | Differences in Ovarian and Other Cancers Risks by Population and BRCA Mutation Location
Comparative In Vitro and In Silico Analyses of Variants in Splicing Regions of BRCA1 and BRCA2 Genes and Characterization of Novel Pathogenic Mutations | PLOS ONE
dbBRCA-Asian
P/LP variants. cDNA and Protein changes are named according to HGVS... | Download Table
A computational model for classification of BRCA2 variants using mouse embryonic stem cell-based functional assays | npj Genomic Medicine
Prevalence and spectrum of BRCA germline variants in mainland Chinese familial breast and ovarian cancer patients | Oncotarget
How to read variant information in the rare diseases test reports…
NGS bioinformatics pipeline—worries and wish lists: A look at the preanalytic, analytic, and postanalytic phases - CAP TODAY
How to read variant information in the rare diseases test reports…
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
Capturing all disease-causing mutations for clinical and research use: Toward an effortless system for the Human Variome Project - Genetics in Medicine
Cureus | Sociodemographic, Clinical, and Variation Outcomes for Breast Cancer and Breast Cancer-Related Mutations in a Ten-Year Cohort From Neiva, Huila, Colombia | Article
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
PDF] The Clinical Significance of Unknown Sequence Variants in BRCA Genes | Semantic Scholar
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
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
Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance | npj Genomic Medicine
Frontiers | Identification of Eight Spliceogenic Variants in BRCA2 Exon 16 by Minigene Assays
Figures and data in Functional and mutational landscapes of BRCA1 for homology-directed repair and therapy resistance | eLife