https://www.selleckchem.com/products/MK-1775.html
Out of 238 VUS, 45 showed functional defects, 26 of which were deleterious in all three assays. For 13 of these 26 variants we could calculate the probability of pathogenicity using clinical and genetic data, resulting in the identification of seven (likely) pathogenic variants. Conclusions We have functionally categorized 238 BRCA1 VUS using three different HRR-related assays. Classification based on clinical and genetic data alone for a subset of these variants confirmed the high sensitivity and specificity of our functional assays.Ob
Like
Comment
Share
