Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings
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DOI: 10.1002/humu.23963
Abstract: The TSC1 and TSC2 gene products interact to form the tuberous sclerosis complex (TSC), an important negative regulator of the mechanistic target of rapamycin complex 1 (TORC1). Inactivating mutations in TSC1 or TSC2 cause TSC,… read more here.
Keywords: functional structural; tsc2 variants; tsc; tsc1 tsc2 ... See more keywords