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Some people with genetic mutations have low levels of it, which means they feel hungry all the time.
Whereas one report indicated that TET2 mutation in AML is associated with a DNA hypermethylation phenotype [ 73], other data suggested that bone marrow samples from patients with TET2 mutations have low 5hmC levels and DNA hypomethylation [ 78, 79].
In contrast, patients with SGLT1 gene mutations have low levels of glucosuria but suffer from glucose galactose malabsorption in the gut, which can be associated with life-threatening severe diarrhoea and dehydration unless a glucose- and galactose-free diet is carefully followed 37.
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Several candidate markers that failed validation in univariate and multivariate analyses such as Chrom19 deletion, Chrom8q amplification, and BAP1 and TP53 mutations had low prevalence ≤10%.
Although various reports have shown that constructed S. mutans mutants deficient of sortase as well as laboratory reference strains with a sortase gene mutation have low cariogenic potential, no known studies have investigated clinical isolates with sortase defects.
Only three individuals with a type 1 CFI mutation had low C3 levels (Supplementary Material, Fig. S3).
Second, as noted above, the neutral drift theory predicts that very low-level mutations will have low variance in the offspring, making them more likely to be preserved through the mtDNA inheritance bottleneck.
Additionally, Figure 2A demonstrated that although the BD-L metagene is enriched in BRCA1-mutation carriers compared to noncarriers, a subset of BRCA1 mutation carriers have low metagene values.
The last represents some idealistic functional impact (FI) scoring system in which the distributions of driver and passenger scores are well-separated (i.e. passenger mutations tend to have low functional impact and driver mutations always have high functional impact) and is designed to assess the upper bound for the amount of improvement than can be achieved by incorporating FI.
For example, do new mutations tend to have low or high penetrance?
All mutations predicted to have low, moderate or high impact on protein sequence (e.g. loss of splice sites, non-synonymous substitutions, stop-codon insertions) were considered "functional".
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