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Rare genetic variants are disease causing and lead to a personalized disease manifestation.
In a second setting, we assumed the simultaneous presence of deleterious and protective effects, i.e the rare alleles of seven DSLs are disease causing, whereas the rare alleles of three DSLs have a protective effect.
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MutationTaster predicts this variant to be disease causing as well.
In protein feature analysis with Mutation Taster, these mutations were shown to be disease causing.
Bioinformatics analysis indicated that the p. K23N mutation was predicted to be disease causing.
MutationTaster predicts this variant to be disease causing by protein truncation and nonsense-mediated decay.
Three mutations previously thought to be disease causing have been reclassified as non-disease causing, while five new mutations have been found by reevaluating the CSGE gels.
This variant was not observed in control populations and was also predicted to be disease causing by SIFT and MutationTaster.
Thus, the segregation of the mutations in the family is consistent with the mutations being disease causing (Fig. 2A).
However, there is a solid body of evidence that some mutations in CYP1A1 can be disease causing [ 25, 26].
This mutation was predicted to affect the protein features and be disease causing (predicted by http://www.mutationtaster.org/).org/
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CEO of Professional Science Editing for Scientists @ prosciediting.com