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The mutations were mainly subclonal (mean Variant Allele Fraction, VAF, 12.3%, range 1.3 61.6%) with one-third of mutations (33/91) above 10% VAF.
Beneficial mutations were mainly related to reduction of the NADP/H pool and the deletion of fermentative pathways.
The analysis of the psbA nucleotide sequence of these strains revealed that mutations were mainly located in two structural regions of the D1 protein.
The effects of the mutations were mainly manifested through increased hazard of mortality between ages 61 and 80. Further, the reduction in estimated life expectancy persisted after excluding deaths following any cancer diagnosis.
Interestingly, while the replication-dependent, UV-induced mutations were mainly point mutations, H2O2 treatment of the MEFs resulted almost exclusively in the kind of genome rearrangement mutations (Figure 9A) observed to increase with age in the serosa of the small intestine (Figure 7B) and in heart and liver of these same lacZ-plasmid mice [2], [3].
Detected p53 mutations were mainly GC to AT transitions at CpG sites.
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Phase 2 mutations are mainly restricted to A∶T pairs surrounding a U∶G mismatch and involve the mismatch repair machinery.
The population structure of the two clinically relevant subspecies, F. tularensis subsp. tularensis (type A) and F. tularensis subsp. holarctica (type B), is highly clonal, a property that facilitates the design of genetic typing systems and deduction of evolutionary relationships among genetic subclades of Francisella, since mutations are mainly inherited vertically [1], [2].
Class-I and class-II mutations are mainly present in leukemic cells.
The under-prediction of BRCA2 mutations was mainly within this category of families (8.60 expected versus 12 observed).
K-ras mutations are mainly found in exon 1, codon 12, 13 and exon 2, codon 61.
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