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The wide range in clinical phenotypes associated with telomerase mutations is compatible with the variable genetic penetrance of these mutations and of their effects on telomere shortening.
We have not attempted a formal population genetics analysis to see if the frequency distribution of mutations is compatible with the neutral theory (such an analysis would be complicated by the need to correct for phylogenetic relationships and the fact that error-prone PCR is biased towards creating certain types of mutations).
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Sequencing of populations at different evolutionary times shows that the number and type of mutations are compatible with other laboratory evolution experiments, which are characterized by competition between variant clones (Barrick et al. 2009; Bachmann et al. 2012).
On the other hand, the p.R407C mutation is compatible with secretion, but rather may exert its pathogenic effect by disrupting interactions with ADAM proteins.
Altogether these data indicate that the IVS6 + 1G > T mutation is compatible with the synthesis of functional FVII molecules (~ 0.01% of normal, 1 pM), which could trigger coagulation.
However, SatB1 is unlikely a key factor for gene silencing in the mouse embryo, as a mutation is compatible with female development (Nechanitzky et al., 2012).
Importantly, the G627A mutation is compatible with both cleavage and ligation activities of the VS ribozyme, and it slightly increases the affinity of the SLI substrate for the VS ribozyme.
Apart from concluding that the clinical features of this mutation are compatible with AD, we identified ring-formed Aβ plaques but did not further study the overall neuropathology.
Although the mutation detected in SLC2A1 is compatible with the common G1D phenotype, we cannot rule out the existence of mutations in other genes involved in CoQ metabolism given the fact that the CoQ metabolic pathway is not well understood.
Two genes are synthetically lethal if mutation of either gene alone is compatible with viability but simultaneous mutation of both genes leads to death.
Two genes are said to be 'synthetic lethal' if mutation in either gene alone is compatible with viability but simultaneous mutation of both genes leads to death [ 1, 3- 5].
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