官方服务：
资源简介：
BRCA1 benign and deleterious variants
应用场景：
创建时间：
2017-03-01
相关数据集
K223R_VUS
A total of 213 PTEN missense variants comprising of 147 VUS, 54 ClinVar Pathogenic and 12 Benign variants were slected for classification utilizing the MD simulations study.
Figshare2023-07-17 更新50
Homo sapiens Targeted Locus (Loci)
1, Male, 20 y/o, ataxia-telangiectasia. 5, Female, 57 y/o, ductal breast cancer at 52 y/o, non-medullary thyroid cancer at 30 y/o. 7, Female, 47 y/o, ductal breast cancer at 46. 8, Female, 33 y/o, duc
NIAID Data Ecosystem40
Identification of BRCA1/2 Founder Mutations in Southern Chinese Breast Cancer Patients Using Gene Sequencing and High Resolution DNA Melting Analysis
BackgroundEthnic variations in breast cancer epidemiology and genetics have necessitated investigation of the spectra of BRCA1 and BRCA2 mutations in different populations. Knowledge of BRCA mutations
NIAID Data Ecosystem40
Additional file 3 of An immune-centric exploration of BRCA1 and BRCA2 germline mutation related breast and ovarian cancers
Additional file 3: Table S3. Panther analysis of genes overexpressed in non-carriers. BRCA1 carriers versus non-carriers.
Figshare2020-03-13 更新40
Evaluation of available variant calling tools for Oxford Nanopore sequencing in Breast cancer
Evaluation of different variant callers and their efficiency in detecting different mutations in BRCA1/2 genes in breast cancer samples
NIAID Data Ecosystem40
