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Frontiers | Identification of Eight Spliceogenic Variants in BRCA2 Exon 16  by Minigene Assays
Frontiers | Identification of Eight Spliceogenic Variants in BRCA2 Exon 16 by Minigene Assays

Prevalence and spectrum of BRCA germline variants in mainland Chinese  familial breast and ovarian cancer patients | Oncotarget
Prevalence and spectrum of BRCA germline variants in mainland Chinese familial breast and ovarian cancer patients | Oncotarget

Reported prevalence of BRCA1 founder mutations in the Polish population. |  Download Scientific Diagram
Reported prevalence of BRCA1 founder mutations in the Polish population. | Download Scientific Diagram

Spectrum of the Mutations in <fc>B</fc>ernard&#x02013;<fc>S</fc>oulier  Syndrome
Spectrum of the Mutations in <fc>B</fc>ernard&#x02013;<fc>S</fc>oulier Syndrome

NGS bioinformatics pipeline—worries and wish lists: A look at the  preanalytic, analytic, and postanalytic phases - CAP TODAY
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…
How to read variant information in the rare diseases test reports…

Table 2 from Suggestion of BRCA1 c.5339T&gt;C (p.L1780P) variant confer  from 'unknown significance' to 'Likely pathogenic' based on clinical  evidence in Korea. | Semantic Scholar
Table 2 from Suggestion of BRCA1 c.5339T&gt;C (p.L1780P) variant confer from 'unknown significance' to 'Likely pathogenic' based on clinical evidence in Korea. | Semantic Scholar

Genes | Free Full-Text | Differences in Ovarian and Other Cancers Risks by  Population and BRCA Mutation Location
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
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

dbBRCA-Asian
dbBRCA-Asian

My Mutation
My Mutation

BRCA2 variants identified in the analyzed population by dHPLC/Sanger... |  Download Table
BRCA2 variants identified in the analyzed population by dHPLC/Sanger... | Download Table

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
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

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?
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?

Capturing all disease-causing mutations for clinical and research use:  Toward an effortless system for the Human Variome Project - Genetics in  Medicine
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
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?
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
Absence of BRCA/FMR1 Correlations in Women with Ovarian Cancers | PLOS ONE

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
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

Frontiers | Minigene Splicing Assays Identify 12 Spliceogenic Variants of  BRCA2 Exons 14 and 15
Frontiers | Minigene Splicing Assays Identify 12 Spliceogenic Variants of BRCA2 Exons 14 and 15

BRCA Exchange
BRCA Exchange

How to read variant information in the rare diseases test reports…
How to read variant information in the rare diseases test reports…

The Breast Cancer Information Core: Database design, structure, and scope -  Szabo - 2000 - Human Mutation - Wiley Online Library
The Breast Cancer Information Core: Database design, structure, and scope - Szabo - 2000 - Human Mutation - Wiley Online Library

Comprehensive profiling of BRCA1 and BRCA2 variants in breast and ovarian  cancer in Chinese patients - Gao - 2020 - Human Mutation - Wiley Online  Library
Comprehensive profiling of BRCA1 and BRCA2 variants in breast and ovarian cancer in Chinese patients - Gao - 2020 - Human Mutation - Wiley Online Library

Germ line BRCA2 pathogenic mutations in breast and ovarian cancer... |  Download Table
Germ line BRCA2 pathogenic mutations in breast and ovarian cancer... | Download Table

My Mutation
My Mutation

Identification of BRCA1/2 Founder Mutations in Southern Chinese Breast  Cancer Patients Using Gene Sequencing and High Resolution DNA Melting  Analysis – topic of research paper in Biological sciences. Download  scholarly article PDF
Identification of BRCA1/2 Founder Mutations in Southern Chinese Breast Cancer Patients Using Gene Sequencing and High Resolution DNA Melting Analysis – topic of research paper in Biological sciences. Download scholarly article PDF

How to read variant information in the rare diseases test reports…
How to read variant information in the rare diseases test reports…