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From the Poisson distribution, only about 4.9% of the genotypes with at least one mutation are expected to have two or more mutations.
Therefore αα, αα*, and α*α* as well as αβ and α*β Tm dimers (where an asterisk represents a point mutation) are expected in affected individuals with a heterozygous background.
Balancing selection is a process that maintains genetic variability in human populations and its signatures, due to recombination and mutation, are expected to extend over relatively short genomic regions (reviewed in [ 9]).
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Where, the crossover and mutation rate are determined by the traditional selection method trial-and-error based on the principle of crossover is expected to be higher while mutation is expected to be lower [32], which respectively equal to 0.2 and 0.02.
Thus, the DSE mutation was expected to reduce mRNA levels.
This mutation was expected to allow for spontaneous disulfide bonding and STAT1 homodimerization as described for STAT3 [25].
Hence, the S259V mutation is expected to impair the receptor capability to effectively bind PTC and to be activated, in an indirect fashion.
The mutation is expected to affect cell-cycle progression [ 25].
The pervasive somatic FOXL2 mutation is expected to be the main driver of GCTs.
Thus, the 579C>G (m.1226C>G) mutation is expected to result in at least suboptimal protein synthesis.
This mutation is expected to produce the BRCA2 inherited breast cancer phenotype.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com