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The same KRAS-TMGB assay was independently developed previously [10] and used for KRAS mutation assessment in CRC [7].
In this study, dideoxy-sequencing was used as a reference for mutation assessment in order to validate the results obtained by Q-PCR assays, especially KRAS-TMGB that had not previously been validated in the diagnostic setting.
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Diagnostic targeted mutation assessment on FFPE-DNA is very efficient with Q-PCR methods in comparison to dideoxy-sequencing.
In Table 1 the frequencies are reported during the course of disease and/or at last assessment in mutation carriers.
Distribution of responses chosen by students in the workbook or tutorial classes for question assessing the mutations random key concept on the summative assessment in study 2.
Further, neuropsychological assessment in series of SOD1 mutation carriers failed to detect significant cognitive impairment (109).
The clinical relevance of 'other' EGFR mutation variants remains uncertain and requires further assessment in a prospective study.
Given the high prevalence and stability of these mutations over the course of disease, NPM1 mutations may serve as ideal targets for minimal residual disease (MRD) assessment in AML.
To evaluate the effectiveness of criteria based on child-parent assessment in predicting familial hypercholesterolemia (FH -causative mutations in unselected children with hypercholesterolemia.
Alioto TS, Buchhalter I, Derdak S et al. A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing.
The assessment of m.3243A>G mutation load in cybrids was performed by quantitative pyrosequencing (supplementary Fig S3).
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