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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].
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The mutation was originally produced by Koller et al. [27] in strain 129.
This mutation was originally modelled on the sly1 20 yeast mutation [51] which bypassed the requirement for the Rab protein Ypt1.
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].
Interestingly the E2-N218K mutation was originally selected for replication of RRV in chicken embryo fibroblast cells and was shown to attenuate the virus in 1-day old mice [58].
The F764L mutation was originally identified in a CAIS patient of Dr. G. Costin (Los Angeles, CA) [11], and has also been reported in other patients by two additional groups [19], [20].
This mutation was originally identified in isolates from oseltamivir-treated individuals infected with H1N1 virus [42], and more recently, in patients infected with HPAI of H5N1 background, a troubling observation given the pandemic potential and extremely virulent nature of this IFV strain [43] [45].
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