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Finally, we performed a Blast search on the NCI EST (expressed sequence tags) database for murine genes with the 150 base pairs upstream of exon 2, which would be unique to a CXCR3-B splice variant, and found no matching cDNA clones.
We had thought we had assessed the activity of the H905C IGF1R variant and found it to be normal.
We have analysed co-segregation in 3 families with a p.Y2660D variant and found a LR of 230.69 which is highly suggestive for being a deleterious variant.
They then fitted the estimated threshold and maximum values to the calculated gene-regulation function for each variant and found good agreement ([ 52], Figure 5).
To assess the impact of glycosylation on the lateral diffusion of CX3CL1, we used FRAP to test the diffusion of the dgCX3CL1 variant and found that its diffusion rate was more than 2-fold larger than that of native CX3CL1 (Fig. 4A).
We counted the fraction of each ROI covered with high-quality genotype calls (both reference and variant), and found that when total mean base coverage was similar (SHS-PE low and FS), FS had a higher fraction of ROI bases covered (Table 3).
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We measured the cellular immune response against the two viral variants and found the 79F mutant to elicit a 50% lower magnitude and a log lower functional avidity CTL response than the initial V82I variant (Figure 5).
We then investigated the mechanism of formation of these structural variants and found that sCNVs are relatively more likely to be formed by VNTR compared to CNVs while CNVs are more likely to be formed by NAHR.
We filtered all the detected variants and found the potential disease causing mutations.
Sugiyama et al. also studied both variants and found a decreased gemcitabine clearance in patients with the 208G>A polymorphism [ 14].
We analyzed the Marwari variants and found a candidate SNV determining its characteristic inward-turning ear tips.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com