...TSC1 or TSC2. In this study, we identified a family with a TSC1 c.363 + 668G > C mutation exhibiting diverse clinical ph...
...TSC1 (n = 4). Twenty-four novel SNVs/Indels were identified. Diagnostic yield correlated significantly with early seizur...
...TSC1 or TSC2 in mice using a Fsp1-Cre leads to spontaneous formation of sarcoid-like granulomas, driven by hyperactivati...
...Tsc1-cKO mice described previously. Furthermore, rapamycin, a well-known mTORC1 inhibitor, significantly mitigated the h...
...TSC1</i> (13.4%), with 11.1 6.1 (mean SEM) mutations/individual. Mutations in <i>KMT2D</i> (p = 0.0127...
...TSC1 or TSC2 and are diagnosed clinically. In such situations, family members cannot be screened using genetic testing. ...
...TSC1, LAMP2, PARK7, and MGST1 were identified as the most characteristic FDEGs, and the diagnostic model composed of the...
...TSC1 mutation in the proband, while both parents exhibited wildtype genotypes. This case report presents an instance of ...
...Tsc1flox/flox mice at birth. In the brain, Tsc1 loss leads to increased proliferation of subventricular zone cells, disr...
...TSC1 gene mutations. However, in our case, we are reporting a rare mutation detected at the flanking splice site of exon...
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