...NF1 gene alteration were documented. The mean age at presentation was 45.5 years (male/female = 5:3). Tumors were midlin...
...NF1 R1276Q, NF1 G484R, VMA21 G55V, SPOP D144N, SGO1 K23E, Pex10 H310D, and FKRP C318Y; second round: NF1 R681*, NF1 M992...
...NF1 or BRAF driver alterations experienced higher 3-year local failure rates (NF1: 0.33 [0.09-0.61] v 0.13 [0.09-0.19]; ...
...NF1) to prevent the offspring from inheriting disease-causing gene variant from their parents. Trio-based whole-exome se...
...NF1). (18)F-2-Fluoro-2-deoxy-D: -glucose (FDG) positron emission tomography and computed tomography (PET/CT) is employed...
...NF1, SOS1, SHOC2, and BRAF being the most frequently mutated genes, together accounting for 50% of the non-PTPN11 diagno...
...NF1] and 28 sporadic) had median presentation age 49 months (range 17-183) (NF1) and 27 months (range 4-92) (sporadic). ...
...NF1-related PN. This is a multicenter, open-label, single-arm, phase I dose-escalation study. Patients with NF1-related ...
[This corrects the article DOI: 10.1016/j.eurox.2022.100152.].
...NF1 gene. It inhibits the activity of Ras GTPase proteins. Lack of functional neurofibromin in patients with NF1 leads t...
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