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Two mutations were demonstrated to be de novo events, and all mutations occurred independently.
BRCA mutations were demonstrated in 496/2,118 (23 %) breast cancer kindreds.
In addition, clinically more severe, recessively inherited, compound heterozygous mutations were demonstrated.
173 HDAC6 null mutations were demonstrated to correct tau-induced microtubule defects in a fly model as well.
The mutational status was only determined in a subset of 12 patients, in whom KIT exon 11 mutations were demonstrated in 10, KIT exon 9 mutation in 1, and no mutation in 1.
More recently, MET and ALK mutations were demonstrated in Ewing sarcomas, and in vitro treatment of five patient-derived cell lines with MET and/or ALK inhibitors produced IC50 values within the low micromolar range [245].
Similar(54)
Moreover, robustness of allosteric performance with respect to mutations was demonstrated.
Recently, a strong association between PD and GBA mutations was demonstrated.
Probably the best documented genes with respect to the latter are BRCA1 and BRCA2, with specific germline mutations being demonstrated to be associated with various indicators of poor outcome [ 6- 9].
Hornig-Do et al 2014 provide evidence that the C-terminal mtLeuRS (Class I) binds to a number of mitochondrial tRNAs, but the rescue effect on mutations was demonstrated here only within Class I (Fig 1).
The functional consequences of the cytoplasmic tail mutation were demonstrated for two anti-viral CTL responses in vivo whereby the tyrosine mutation abrogated cross-priming of those viral epitopes.
More suggestions(15)
deployment were demonstrated
transfer were demonstrated
mutations were hitherto
mutations were found
mutations were identified
mutations was demonstrated
mutations were selected
mutations were described
mutations were detected
mutations were analyzed
mutations were eliminated
mutations were verified
mutations were made
mutations were observed
mutations were confirmed
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