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CL in patients with different genetic defects. (a) Patients with RAS-MAPK pathway-related defects (BRAF, SHOC2 and PTPN11 mutations, respectively). (b) Patient with RIN2 mutation, (c) patient with ATP6V0A2 mutation, (d) patient with ALDH18A1 mutation, (e) patient with GORAB mutation and (f) patient with PYCR1 mutation.
