Publications:

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: V126F

PubMed Link: 27493206

Variant Present in the following documents:

• Main text

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Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2.

European Journal Of Human Genetics : Ejhg

Kwiatkowski, David J DJ; Palmer, Michael R MR; Jozwiak, Sergiusz S; Bissler, John J; Franz, David D; Segal, Scott S; Chen, David D; Sampson, Julian R JR

Publication Date: 2015-12

Variant appearance in text: TSC2: 376G>T; Val126Phe

PubMed Link: 25782670

Variant Present in the following documents:

• ejhg201547x1.xls, sheet 1

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