Home

Σας δείχνει ολίσθηση Εκτελέσιμο mutations hgvs bic Αχιβάδα Συνήθως εξωτικός

Absence of BRCA/FMR1 Correlations in Women with Ovarian Cancers | PLOS ONE
Absence of BRCA/FMR1 Correlations in Women with Ovarian Cancers | PLOS ONE

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

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

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?

Frameshift mutations detected in BRCA genes | Download Table
Frameshift mutations detected in BRCA genes | Download Table

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

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

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

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

BRCA Exchange
BRCA Exchange

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
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

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?

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

My Mutation
My Mutation

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

Genes | Free Full-Text | BRCA1/2 Mutations in Vietnamese Patients with  Hereditary Breast and Ovarian Cancer Syndrome
Genes | Free Full-Text | BRCA1/2 Mutations in Vietnamese Patients with Hereditary Breast and Ovarian Cancer Syndrome

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

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

Common mutation types of BRCA1 or BRCA2 genes in the BIC database. |  Download Scientific Diagram
Common mutation types of BRCA1 or BRCA2 genes in the BIC database. | Download Scientific Diagram

My Mutation
My Mutation

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

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

dbBRCA-Asian
dbBRCA-Asian

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

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