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Although multiple genes and signaling pathways have been implicated in renal cancer, VHL is the best characterized driver mutation, as it is mutated in the majority of sporadic ccRCC [ 10].
The TDT analysis detected the protective role of the HbS mutation as it was under-transmitted to CM children (P = 0.036) (Table 4).
We chose the F595 to Ala mutation as it induced a large decrease in the constitutive activity of V617F (Figure 2A).
We chose this mutation as it is the most common mutation causing iDEND syndrome [ 3].
The variant was searched in the HGMD and found as a novel mutation, as it was not previously reported.
The mutation in proband II:3 is considered to be a de novo mutation as it was identified only in the affected male.
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This means that while SITS narrows the distribution of mutations by letting the less damaged cells live longer and removing highly mutated cells, the T-SCE widens the distribution of mutations as it both widens the distribution of cell longevities and at the same time recombination makes cells "forget" about their history of exposure to DNA damage.
Integration plasmids are often used in constructing chromosomal mutations, as it enables the alternation of genes at any location by integration or replacement.
Furthermore, it appears that such atypical networks can reliably be reached in relatively few generations, even when the range of variation available to selection is constrained to single point mutations as it was in these simulations.
The problem of distinguishing driver and passenger mutations is as acute for structural mutations as it is for point mutations [ 10- 13].
It has to be said that the splicing assay demonstrated that exon 17 inclusion was only partial for all of these mutations, as it was for the wild type exon.
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