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These 51 tumor samples included 15 tumor samples mutated at IDH1 R132, of these, 12 contained the R132H mutation, two the R132C mutation and one sample the R132G mutation (Fig. 3b).
Two cases (#7, 12) lost the original mutation and one of them (#7) acquired a new one instead (Figure 2b).
Three of the lesions contained a single somatic mutation, and one lesion contained two biallelic somatic mutations.
A bigger impact was seen when the tevacaftor and Kalydeco were used in patients who had one F508del mutation and one barely functioning CF gene.
We report one new mutation and one polymorphism in PKD2.
CMT4J patients are compound heterozygous for one missense mutation and one loss-of-function mutation.
Three cases had a RAS mutation and one a JAK2 V617F mutation.
In clade I, A and B differed by one single mutation and one gap.
with MDS/AML, three had the T354M mutation, and one had deletion T355.
One tumour carried a NRAS Q61R) mutation and one tumour the novel mutation in KIT P838S).
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