...NF1, RET, and BRCA2 mutations were also identified. The prevalence and type of pathogenic mutations did not differ betwe...
...NF1 [p.(Thr1295Ala)], TSC1 [p.(Arg517Gln)], SDHB [p.(Glu176Gly)] and CDH23 [p.(Ala765Val)] variants were detected in fou...
...NF1). GT completion was significantly associated with being White, Native American/Alaskan Native, and Ashkenazi Jewish ...
...NF1, TSC1, TSC2, RB1, PTCH1, STK11, and FH, were selected and the pathogenicity of each variant was reassessed using the...
...NF1 (19%). Overall 66% (21/32) of cases showed a pathogenic alteration in at least one of the MAPK pathway genes. No sta...
...NF1, ATRX, and PDGFRA mutations were nearly exclusive to specimens without EGFR amplification. EGFR amplification was no...
...NF1 (7.8%), and KIT (23.1%) in MMs, our study also found that (i) mutations and amplifications in the transmembrane nucl...
...NF1, NRAS, PPP1CB, PTPN11, RAF1, RASA1, RIT1, SHOC2, and SOS1. The most significant contributor among these variants was...
...NF1 and NF2 mutations. No cases had SUZ12 or EED mutations. In summary, we identified recurrent SMARCB1 alterations in E...
...NF1, a known RAS pathway inhibitor, was also upregulated. Isoform analysis revealed novel transcript variants, suggestin...
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