...TSC2 variants are variants of uncertain significance (VUS). VUS in TSC2 have been resolved by one-at-a-time functional a...
...TSC2 mutations showed significantly lower IQ scores than those carrying TSC1 mutations (p < 0.001). Total parental stres...
...TSC2 mutation, active epilepsy, and lower educational attainment were associated with greater TAND severity. TSC2 mutati...
...TSC2 mutation. Tuberous sclerosis complex is associated with dysregulation of the mammalian target of rapamycin (mTOR) s...
...TSC2 mutations in 68 patients (93%), corresponding to 71 distinct mutation sites. Fourteen variants (2 in TSC1, 12 in TS...
...TSC2 mutations in 9/17. All 5 cases with condensed eosinophilic cytoplasm uniformly harbored TSC1 mutations. Analysis of...
...TSC2, NFATC2, TCF7L2, TLR4, RANBP17, ITK, NEB [Chr2:152499355], NUP214, FBN2, and NEB [Chr2:152544903]). Drug-target pre...
...TSC2. Molecular profiling of residual disease in extensively poor responding TNBC post-NAC revealed multiple potentially...
...TSC2 gene. The tumor size and location led to early initiation of oral everolimus at 0.06 mg/kg twice daily. Therapeutic...
...TSC2) and in NF2 harbouring novel genetic alterations. Integrating our results with published datasets of AFX and PDS mu...
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