rs80356929
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
|
31131967 |
2019 |
rs80356929
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Validation of an NGS Approach for Diagnostic BRCA1/BRCA2 Mutation Testing.
|
25893891 |
2015 |
rs80356929
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
A high-throughput functional complementation assay for classification of BRCA1 missense variants.
|
23867111 |
2013 |
rs80356929
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Functional differences among BRCA1 missense mutations in the control of centrosome duplication.
|
21725363 |
2012 |
rs80356929
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).
|
21990134 |
2012 |
rs80356929
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Assessment of human Nter and Cter BRCA1 mutations using growth and localization assays in yeast.
|
21922593 |
2011 |
rs80356929
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Identification of breast tumor mutations in BRCA1 that abolish its function in homologous DNA recombination.
|
20103620 |
2010 |
rs80356929
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example.
|
19563646 |
2009 |
rs80356929
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.
|
17924331 |
2007 |
rs80356929
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Cancer-predisposing mutations within the RING domain of BRCA1: loss of ubiquitin protein ligase activity and protection from radiation hypersensitivity.
|
11320250 |
2001 |
rs80356929
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Frequency of BRCA1/BRCA2 mutations in a population-based sample of young breast carcinoma cases.
|
10717622 |
2000 |
rs80356929
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
A highly accurate, low cost test for BRCA1 mutations.
|
10528853 |
1999 |
rs80356929
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Identification of missense and truncating mutations in the BRCA1 gene in sporadic and familial breast and ovarian cancer.
|
9523200 |
1998 |
rs80356929
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
BRCA1 mutations in a population-based sample of young women with breast cancer.
|
8531967 |
1996 |