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The variant was most frequent in young familial patients (5.1% of cases ≤45 years, p = 0.003).
However, the 7.6 Kb splice variant was most prominent in the liver and placenta and appeared to be a minor transcript in other tissues.
This variant was most frequent among Hispanic individuals (n=19) but was also identified in Ashkenazi Jewish and Caucasian (n=9 combined) individuals and in individuals for whom ethnicity information was not provided to the laboratory (n=7).
The Gln → Ala kcatt = 1.27 ± 0.10 min–1) variant was most active, as the kcat decreased 20-fold relative to that of WT-FIH, whereas the kcat for Gln → Asn (0.14 ± 0.02 min–1) decreased 200-fold.
As HGSNAT mutations cause a syndrome with retinal degeneration, whereas KAT6A mutations are associated with leukemia, we concluded that the HGSNAT c.370A>T (p.R124W) variant was most likely the causative mutation (Supplementary material, Table S1).
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The variant is most common in West Asian populations, the region where the mating probably happened.
Large cell/anaplastic (LC/A) variant is most commonly associated with metastatic disease [ 3].
This variant is most appealing if considering the development of new synthetic strategies for PAHs, which would become available from ubiquitous bis phenols).
We therefore conclude that the identified canine COL6A1 variant is most likely causative for the observed muscular dystrophy in Landseer dogs.
The dsRNA cleavage activity of R39A/G38D and Q28A/G38D/R39A variants was most drastically reduced to 4% of that of HPR.
Furthermore, in a case control analysis of 1119 smokers, double homozygosity for the BRM promoter variants was most strongly associated with the risk of lung cancer independent of histology (adjusted odds ratio [aOR], 2.19; 95% confidence interval [CI], 1.40 3.43; P = 0.0006) 15.
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