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The mutation was originally produced by Koller et al. [27] in strain 129.
The mutation was originally identified in four brothers, three of which suffered from aggressive prostate cancer [18].
This mutation was originally isolated in a large scale mutagenesis screen for recessive embryonic lethal genes [11].
The xenicid mutation was originally identified in a screen designed to uncover regulators of adhesion between wing surfaces [1].
This mutation was originally characterized by Mills et al., who demonstrated that the expression of UCP-2D212N raises mitochondrial membrane potential [29].
This mutation was originally modelled on the sly1 20 yeast mutation [51] which bypassed the requirement for the Rab protein Ypt1.
Similar(36)
A sixth and a seventh mutation were originally described in 2011 in individuals stemming from consanguineous Pakistani pedigrees [21].
Transgenic mice expressing a human genomic SOD1 construct with the G93A mutation were originally derived from the Gurney G1 mice, but because of a reduction in the transgene copy number (8 instead of ~20 transgene copy numbers per haploid genome) show a delayed disease onset and are termed G1del mice [ 30- 32].
One of these mutations was originally observed only in a subpopulation of cells.
The currently accepted hypothesis is that these mutations were originally neutral, meaning that deletion of the vitamin C production pathway had no selective advantage or disadvantage.
Although this pattern cannot be used to determine if the mutations were originally fixed by natural selection, conservation after an ancient diversification indicates a long period of stasis, consistent with purifying selection on adaptive, alternative amino acid states.
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