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They tested the women for the NQO1*2 mutation and compared their survival rates over an average of nearly 6 years of follow-up visits.
In this study, we examined survival for men with prostate cancer and a BRCA2 mutation, and compared this to a similar group of men with a BRCA1 mutation.
To gain insight into both RTT and MECP2 duplication syndrome, we generated transgenic mouse models of MeCP2 carrying the R111G or the R306C missense mutation and compared them to the existing Mecp2 null mice.
In the present study, we investigated a well-defined and selected group of NF1 patients fully active in daily life, with normal intelligence and without motor or cognitive impairments carrying the NF1 mutation and compared them to age-matched controls.
For mutagenesis study, we performed local energy minimization after each in silico mutation and compared the backbone root-mean-square deviation (RMSD) of the wild-type and mutated folds in the region of the PXR binding pocket.
Analyses of the time from first breast cancer to contralateral breast cancer showed that contralateral breast cancer risk was significantly higher in women from families with a BRCA1 mutation compared to women from families with a BRCA2 mutation and compared to women from families without a BRCA mutation.
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These assays check whether the oligonucleotides or DNA fragments are able to repair a given mutation and compare repair efficiencies in various cell lines.
We performed a population-based cohort study by genotyping 7747 DNA samples from the 1958 British birth cohort for the m.1555A>G mutation and comparing the genotype with hearing outcome at 44 45 years.
Recently, Talavera et al. [34] investigated the pattern of cancer-related mutations and compared them with those from polymorphic variants.
The location of disease-associated mutations relative to functional domains in the PLA2G6 protein is illustrated in Figure 2. We produced recombinant proteins containing each of the disease-associated mutations and compared catalytic activity to the WT PLA2G6 protein.
Next, we extracted mutation subtypes from the LoF and GoF mutations and compared their distributions.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com