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Concerning the young age of the patient, research on the pathogenic variant in phacomatosis susceptibility genes ( NF1, NF2, SPRED1, SMARCB1, LZTR1) and other 24 genes relevant in the pathogenesis of nervous system tumors ( TP53, EGFR, PDGFRA, PTEN, PIK3CA, PIK3R, RB1, NOTCH1, CDK4, CDKN2A, CDKN2B, IDH1, IDH2, FUBP1 CIC, TACC3, TERTp, ATRX, DAXX, FGFR3, ACVR1, H3F3A, KIAA1549 BRAF) , was performed using a customized gene panel on lymphocyte DNA and tumor tissue
10.1021/bi015964x Biochemistry 109 ThompsonJ
Two polyps was detected, one in the iliocecal valve and the other in the sigmoid
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