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The accident, the mutation, we don't know what — but definitely something, because in the result is the proof".
Although our results clearly indicate presence and transcription of the altered allele as well as effects of this mutation, we do not have proof of abolishment of GTPase activity.
While Veridical does indeed validate the splicing consequence observed, when we say that it validates the mutation we do only mean that it strongly corroborates the mutation as a causative agent of the splicing consequence.
While it is tempting to ascribe this solely to the presence and activity of the Lrp5 G171V HBM mutation, we do not know if increased sensitivity to loading is a function of the specific activity of the mutation or the result of having 4-fold higher Lrp5 mRNA expression in bone compared with controls [14].
Similar(56)
Despite the functionality of the -151C/T GHSR mutation we did not find a significant impact of this mutation in the general population of adult Danes.
Other than the de novo POGZ mutation, we did not identify additional molecular events that would account for her phenotype.
In the two patients carrying a BRAF mutation we did not detect any point mutation in the K-Ras gene (Table 2).
When we introduced a single copy of a chromosome carrying the Caf1p55 short mutation, we did not observe any discernible effect on the GMR-Gal4;f00391 rough eye phenotype.
Although we hypothesized that neck ventroflexion in cats could be associated with a thyrotoxic or familial periodic paralysis channel mutation, we did not identify any previously detected human channel mutation in the hyperthyroid cat presenting hypokalemia.
To assess the specificity of the Rv2042 GGC mutation, we screened 2 isolates of all M. tuberculosis complex (sub species and 2 isolates of all M. tuberculosis groupings, on the basis of >60% IS 6110 similarity, for this mutation; we did not find it in any of the strains tested (data not shown).
For de novo synonymous mutations, we did not find any significant codon usage shift [P SH ≤ SH_r) = 0.868 for 27 mutations in 27 genes, SH = −6.12].
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com