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Targeted therapies, which are designed to disarm these mutations, are now at the forefront of care.
Such resistance and associated mutations are now widespread globally and are present in Ae. aegypti populations from Bangkok41, while pyrethroid susceptibility has been maintained in Ae. aegypti from northern Queensland Australiaa)42, where Cairns is located.
Interestingly, de novo mutations are now known to be rather pervasive in the brain [75, 76].
Oncogenic activating mutations are now known to occur in a number of epigenetic modifiers (i.e. IDH1/2, EZH2, DNMT3A), pinpointing epigenetic pathways that are involved in tumorigenesis.
Cx mutations are now widely accepted as one of the most common human mutations causing severe sensorineural deafness.
TS mutations are now being used more and more extensively to probe gene function in the nematode Caenorhabditis elegans.
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The cancer risks conferred by mutations in these genes are now well established, but together they explain only approximately 25% of the overall excess familial risk.
(3) Genotype-specific therapy for some subgroups of AML, especially those with FLT3 mutations, is now successfully combined with intensive chemotherapy backbones [2, 19].
Testing for KRAS mutations is now being recommended as a tailored therapeutic strategy prior to anti-EGFR treatment; however, the low sensitivity of direct sequencing frequently leads to failure of detection of KRAS mutations in clinical samples.
Exemplifying this, roughly 200 variants that were previously believed to be disease-causing mutations were now revealed to be mostly harmless polymorphisms by use of the database [26, 34].
The identification of point mutations is now straightforward owing to advances in sequencing technology and in mutation detection.
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