Sentence examples for results for mutations from inspiring English sources
Objective We reevaluated 49 girls with either Rett syndrome (RTT) or features of RTT who had negative test results for mutations in the MECP2 gene and compared them with 49 girls who had positive test results.
Details of sequencing results for mutations are described in Table 4.
Irrespective of the precise mechanism, our similar results for mutations in the two limbs of CL3 suggest these regions of the protein play similar functional roles.
Recently, efforts to establish mutational profiles of lung cancer have been undertaken and showed promising results for mutation-specific treatment, for example of tumour cells showing ras mutations, with an Hsp90 inhibitor [ 43].
Recent studies have reported promising results for mutation carriers treated with Cisplatin [ 28, 34] and PARP inhibitors [ 35].
This is in contrast to more consistent results for truncating mutations, which are true loss of function mutations.
The fact that our mutant libraries were constructed at the codon rather than the nucleotide level means that the vast majority (54 of 63) possible mutations to each codon involve multiple nucleotide changes, and so the sequencing results for these mutations can be analyzed essentially at face value, without having to worry about confounding errors.
Based on the published reports of HCM hiPSC models, results for sarcomeric mutations maybe somewhere in the middle; all HCM hiPSC models regardless of the underlying mutation exhibit cellular hypertrophy in a matter of weeks (Table 2 ), whereas it takes decades for patient to develop cardiac hypertrophy.
We report here the results for three mutations (N211D, V212D and V212T) changing the polarity close to the putative acid/base catalyst E209.
We took the full set of B-SIFT results for somatic mutations found in high-throughput cancer sequencing datasets and filtered based on alignment quality, B-SIFT score, and available expression information (see Methods).
Results for other mutations have been contradictory and other toxic effects may therefore exist.
