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As expected, UVB mutations were the largest single mutational class in the non-Aza BCC and one or more mutations of this type were found in 6 out of 12 (50%).
We assessed carotid intima-media thickness (IMT), a surrogate marker of CHD, in relation to LDLR mutational class in FH.
Regardless of the heterogeneity of the mutational types, we did not observe any significant difference when missense cases were compared to the other mutations, although this may be due to the limited number of patient samples of each mutational class in our study.
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Here we report correlations between standardised measures of intelligence and mutational class, mutation size, mutation location and the cumulative loss of dystrophin isoforms, focusing in particular on the risk of cognitive disability for mutations that involve the dystrophin isoform Dp140.
In this study we report correlations between standardised measures of intelligence and mutational class, mutation size, mutation location and the involvement of dystrophin isoforms.
The test conducts pairwise comparisons using the 11 mutational classes shown in Figure 4B and Supplementary Table 2), including the subset of G C to A T mutations that occurred at CpG sites.
Our analysis of BCC from immunosuppressed OTR demonstrated that UVB signatures were the predominant mutational class and comprised almost half of all PTCH mutations in the azathioprine-exposed (44.4%) group.
Male-only mutants (Table 3 column WM > 1, WF = 1) were found in all mutational classes, except for f→f+/a→A and a→A/f→f+.
Other mutational classes that have the tendency in testes, blastulae, and liver are A to T, T to A, and G to T (p < 5 %, Additional file 9: Figure S8, Additional file 6: Figure S9 and Additional file 7: Figure S10).
The search for specific mutational classes appears to be useful only in specific CF clinical forms.
No significant difference was observed in the mean FSIQ for the different mutational classes (data not shown).
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