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In our analysis of 45 patients and 280 control subjects, the 35delG and 167delT mutations were absent in both groups.
The novel mutations were absent in 200 Caucasian and 100 African American subjects.The MyS in plectinopathy is attributed to destruction of the junctional folds and the myopathy to defective anchoring of muscle fiber organelles and defects in sarcolemmal integrity.
These three mutations were absent in 105 healthy control sequences.
Naturally occurring NAI resistance mutations were absent or, at least, very rare in this population.
These mutations were absent in 120 normal control subjects.
GNAQ mutations were absent in these nine cases.
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Dubbink HJ, Bakels H, Post E, et al. TERT promoter mutations and BRAF mutations are rare in sporadic, and TERT promoter mutations are absent in NF1-related malignant peripheral nerve sheath tumors.
NPM1 haploinsufficiency and mutation appear to exert very different effects (Figure 4) as patients with NPM1 mutated-AML have normal karyotype, rare TP53 involvement, good prognosis if FLT3-ITD mutations are absent, and a predominance of females [2], [25], [26].
RUNX1 mutations are absent in CBF AML and acute promyelocytic leukemia.
In the vast majority of non-glial tumors, however, such mutations are absent [ 8].
As could have been expected, most replication events do not change fitness, particularly because mutations are absent.
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