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Biochemical, cellular and functional analyses of a number of SI mutations constituted the basis for a classification of these mutants into seven phenotypes depending on the intracellular localization and function of SI [9] (Table 1).
In most heterogeneous tumors, cells with all mutations constituted the major population (Table 1).
The set of identified point mutations constituted the input genotype data for GWAMAR.
The examples of 6,480 deleterious mutations and 1,637 neutral mutations constituted the initial knowledge base.
Expression levels of PIK3CA, the oncogene bearing the highest number of mutations in breast cancer, were therefore mostly stable in breast cancer subgroups indicating that mutations constituted the main tumor change affecting PIK3CA.
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Mutations constitute the main source of genetic diversity in asexual populations.
Finally, the fact that we have observed in the networks a fairly strong founder effect with a small cluster of haplotypes (separated by single step mutations) constituting the vast majority outside Africa provided further evidence for absence of recombination.
These mutations constitute the genotype data.
The remaining 1,637 neutral mutations constitute the negative examples.
Of these, 6,480 deleterious mutations constitute the positive examples.
Further, it is unclear based upon current data as to whether the aforementioned ETNK1 mutations constitute the driver mutation for the underlying MPN or MDS/MPN.
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