...NF1 variants. WGS in Case 2 also revealed homozygous MTAP loss and chromoanasynthesis on chromosome 9. Case 1 received S...
...NF1/2) were frequent (55%). In EVT, RCC-FMS and renal hemangioblastoma, TSC1/2 and MTOR mutations occurred with similar ...
The study was conducted to determine the level of ornithine decarboxylase (ODC) activity in several types of peripheral ...
...NF1). Our study demonstrated that HNRNPU expression is associated with cisplatin sensitivity in bladder urothelial carci...
...NF1 (26%), and NF2 (14%). BRAF V600E mutations were detected in 3/27 sequenced cases (12%). Copy number analysis showed ...
...NF1 associated neurofibromas (10), neuroblastomas (5), desmoid tumors (2), MPNST (2), ganglioneuroma (1), Ewing sarcoma ...
...NF1, MAT1A, and ABCC6. Variants were also found in known AN-related genes (CD36, DRD4, GCKR, GHRL, GRIN3B, GPR55, LEPR) ...
...NF1, ROS1 and MYB. Fusions included KANK1::NTRK2, GOPC::ROS1 (both infant hemispheric gliomas), FGFR1::TACC1 (diffuse LG...
...NF1 (12%), SF3B1 (11%), GNA11 (7%), GNAQ (5%), and FBXW7 (4%). A large number of chromosomal structural variants was fou...
...NF1 (in 4), PMS2 (in 4), RB1 (in 3), and RUNX1 (in 3). A total of 18 additional patients had protein-truncating mutation...
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