Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings
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, and the identification of a pathogenic TSC1 or TSC2 variant helps establish a diagnosis of TSC. However, it is not always clear whether TSC1 and TSC2 variants are inactivating. To determine whether TSC1 and TSC2 variants...
Paper Details
Title
Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings
Published Date
Dec 19, 2019
Journal
Volume
41
Issue
4
Pages
759 - 773
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Notes
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