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Furthermore, trajectories of individual mutations, combinations of two mutations and predefined clades such as 3c3.a can be plotted.
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In these cases, severe (null) mutations are usually associated with syndromic IRD, whereas milder (hypomorphic) mutations or combinations of mutations are usually associated with non-syndromic IRD.
On the other hand, if a trait can be conferred by a large number of different mutations or combinations of mutations, then it will be less effective to monitor specific mutations.
Future studies may identify mutations or combinations of mutations that drive a specific phenotype.
In fact, it seems likely that rather than individual mutations themselves, combinations of mutations provide cell lineages with an advantage in terms of growth and their invasive capabilities.
One hypothesis would be that some mutations or combinations of mutations too drastically affect the activity or the stability of the protein.
Over the last 20 years, many mutations and combinations of mutations in protease have been reported to play a role in drug resistance [ 4, 5].
In addition, the program output provides two tables showing published drug susceptibility data and references for mutations and combinations of mutations found in the analyzed sequence.
In addition, the program provides a report with published phenotypic data for mutations or combinations of mutations found in the query sequence.
The rules used for the genotypic interpretation are based on correlations between the effects of mutations and/or combinations of mutations in drug resistance as observed in vitro or in the clinical setting [ 15].
pRF108-M, which encodes the M segment, was used to generate single AUG-to-GCG mutations or combinations of KO mutations by site-directed mutagenesis.
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