...TSC2 genes. Methods: A retrospective analysis was conducted on 8 MMPH cases diagnosed at Shanghai Pulmonary Hospital Aff...
Tuberous sclerosis complex (TSC) is a multisystem disease caused by pathogenic variants in TSC1 or TSC2 genes. Although ...
...TSC2 as hub genes among them. Exploratory assessment in an independent dataset partially replicated the expression patte...
...TSC2. Adult-onset epilepsy and mosaic cases were described. Of 180 adults with TSC, 148 were included. At last follow-up...
...TSC2, NCOR2, and CTNNA2 that are predicted to be likely pathogenic. The spectrum of mutations, particularly the coincide...
...TSC2, or MTOR. We describe a 72-year-old male with a history of pancreatic neuroendocrine tumor, gastrointestinal stroma...
...TSC2, GNAS), validating mutations, examining gene methylation, and correlating with clinical features. Thirty samples, i...
...TSC2, EZH2, EP300, KMT2D, and B2M, with subtype-specific distribution. Pathway enrichment analysis implicated role of No...
...TSC2 genes, characterized by overgrowth and lesions in multiple organs. While renal angiomyolipomas are commonly seen, l...
...TSC2 alterations, and a small subset features TFE3 rearrangements, mutually exclusive of TSC mutations. Recently, "periv...
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