Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance.
about
Molecular modeling and molecular dynamic simulation of the effects of variants in the TGFBR2 kinase domain as a paradigm for interpretation of variants obtained by next generation sequencing.Germline missense pathogenic variants in the BRCA1 BRCT domain, p.Gly1706Glu and p.Ala1708Glu, increase cellular sensitivity to PARP inhibitor olaparib by a dominant negative effect.Expression of cancer related BRCA1 missense variants decreases MMS-induced recombination in Saccharomyces cerevisiae without altering its nuclear localization.A new bioinformatics tool to help assess the significance of BRCA1 variants.Accurate classification of BRCA1 variants with saturation genome editing
P2860
Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
Functional assays provide a ro ...... nts of uncertain significance.
@en
type
label
Functional assays provide a ro ...... nts of uncertain significance.
@en
prefLabel
Functional assays provide a ro ...... nts of uncertain significance.
@en
P2093
P2860
P50
P356
P1433
P1476
Functional assays provide a ro ...... ants of uncertain significance
@en
P2093
Ankita Jhuraney
David E Goldgar
Edwin S Iversen
Giuliana De-Gregoriis
Nicholas T Woods
Rebekah Baskin
Tereza Vaclova
P2860
P2888
P356
10.1038/NPJGENMED.2016.1
P577
2016-03-02T00:00:00Z
P5875
P6179
1036763079