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Kataegic mutations occur almost exclusively at a cytosine preceded by a thymine.
CIC mutations occur almost invariably with IDH mutations, and they are exceedingly rare in other brain tumors.
7, 15– 17 Heterozygous mutations occur almost exclusively at position P95, 8 which is essential for forming extensive contact with the target RNA through stacking.
Gastrointestinal stromal tumours that are defined by a PDGFRA mutations occur almost exclusively in the gastric location, show epithelioid morphology and usually have a low mitotic count.
While certain genetic lesions common to MM (for example, t(14 16), t(4 14) and hyperdiploidy) are also present in the asymptomatic precursor to MM, monoclonal gammopathy of unknown significance, Ras mutations occur almost exclusively in MM.
Strikingly, while mutations of GATA3 in the congenital disorder HDR syndrome are found throughout the protein [ 22], breast cancer specific mutations occur almost exclusively in exons 5 and 6 (TCGA).
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This mutation was found together with L100I and P225H in two and one patient, respectively; both mutations are known to occur almost exclusively with K103N in patients failing an antiretroviral regimen containing efavirenz [ 32].
Moreover, mutations in HD cases occur almost exclusively in the HAT domain (8/9; 89%).
The documented data (Table 4) suggest that mutations in DCM may occur almost anywhere in LMNA; however, the Coil1b region, which is important for lamin A/C dimerization and lamin B interaction, seems to be affected most frequently.
Second, not all mutations of a class are equivalent; mutations in ASXL1, RUNX1 or TET2 occur almost as frequently at the chronic stages as in AML whereas mutations of IDH1/2 or DNMT3A are preferentially found at the acute stage.
Further, we observed that in previously reported cases of BOS known disease-causing nonsense mutations in ASXL1 [ 2, 20] occur almost entirely within a very limited region of the protein,.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com