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Our conclusion is that the probability of a false negative point mutation in central regions of a chromosome is low (< 0.05).
Dahdouh et al. [ 12] suggested that this discrepancy of associated variant (A or G) might be due to independent mutation events at DYX1C1, in which the common allele G is a putative DYX1C1-causing mutation in Central Europeans [ 10, 11], whereas it points to a rarer allele A in the Finnish and the Italian populations [ 8, 9].
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Thus, assuming that mutations in central genes have a high phenotypic impact, our results indicate that some large phenotypic changes, driven by promoter evolution, may have boosted the evolution of the human lineage.
Mutations in central components of the RNAi machinery result in improper chromosome segregation [ 74].
The 5382insC in exon 20 of BRCA1 is also one of the most common recurrent mutations in Central and Eastern Europeans [ 5- 9].
The FBA predictions motivated us to look for other mutations in central metabolism that may have contributed to refining the Cit++ phenotype.
In a previous study [ 16], Ottini et al. reported one BRCA1 and three BRCA2 mutations including two mutations recurring in central Italy (BRCA1 3345delAG and BRCA2 6696delTC).
The researchers said the mutation occurred in central China, where extra sweat glands would have been a boon to the hunter-gatherers who lived in the warm, humid region.
Covalent trimers with a catalytic mutation in the central subunit formed hexamers with two mutated subunits that had robust ATPase activity.
However, as a result of a mutation in the central core epitope (DSW instead of DKW), HIV-1 C subtype viruses are usually 2F5-resistant (Bures et al., 2002; Binley et al., 2004; Gray et al., 2006).
The frequency of mutations in the dystrophin gene in our DMD population was as follows: 35 patients (50%) had a mutation in the central region, 9 (12.86%) a deletion in the amino terminal region, 11 (15.71%) had other mutations (6 had deletions in the hot spot regions, 3 had a point mutation, and 2 had a duplication); fifteen patients (21.43%) had no identified mutations.
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