Publications:

Low-Dose Everolimus Maintenance Therapy for Renal Angiomyolipoma Associated With Tuberous Sclerosis Complex.

Frontiers In Medicine

Luo, Cong C; Ye, Wen-Rui WR; Zu, Xiong-Bin XB; Chen, Min-Feng MF; Qi, Lin L; Li, Yang-Le YL; Cai, Yi Y

Publication Date: 2021

Variant appearance in text: TSC2: 1001T>G; Val334Gly

PubMed Link: 34901059

Variant Present in the following documents:

• Main text
• fmed-08-744050.pdf

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Structure of the Tuberous Sclerosis Complex 2 (TSC2) N Terminus Provides Insight into Complex Assembly and Tuberous Sclerosis Pathogenesis.

The Journal Of Biological Chemistry

Zech, Reinhard R; Kiontke, Stephan S; Mueller, Uwe U; Oeckinghaus, Andrea A; Kümmel, Daniel D

Publication Date: 2016-09-16

Variant appearance in text: TSC2: V334G

PubMed Link: 27493206

Variant Present in the following documents:

• Main text

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Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.

Molecular Autism

Bahl, Samira S; Chiang, Colby C; Beauchamp, Roberta L RL; Neale, Benjamin M BM; Daly, Mark J MJ; Gusella, James F JF; Talkowski, Michael E ME; Ramesh, Vijaya V

Publication Date: 2013-03-20

Variant appearance in text: TSC2: V334G

PubMed Link: 23514105

Variant Present in the following documents:

• 2040-2392-4-5-S5.xls, sheet 1

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