Publications:

Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis.

Human Mutation

Ekong, Rosemary R; Nellist, Mark M; Hoogeveen-Westerveld, Marianne M; Wentink, Marjolein M; Panzer, Jessica J; Sparagana, Steven S; Emmett, Warren W; Dawson, Natalie L NL; Malinge, Marie Claire MC; Nabbout, Rima R; Carbonara, Caterina C; Barberis, Marco M; Padovan, Sergio S; Futema, Marta M; Plagnol, Vincent V; Humphries, Steve E SE; Migone, Nicola N; Povey, Sue S

Publication Date: 2016-04

Variant appearance in text: TSC2: 3837C>G; Y1279*

PubMed Link: 26703369

Variant Present in the following documents:

• Main text
• HUMU-37-364.pdf

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The UK10K project identifies rare variants in health and disease.

Nature

, ; Walter, Klaudia K; Min, Josine L JL; Huang, Jie J; Crooks, Lucy L; Memari, Yasin Y; McCarthy, Shane S; Perry, John R B JR; Xu, ChangJiang C; Futema, Marta M; Lawson, Daniel D; Iotchkova, Valentina V; Schiffels, Stephan S; Hendricks, Audrey E AE; Danecek, Petr P; Li, Rui R; Floyd, James J; Wain, Louise V LV; Barroso, Inês I; Humphries, Steve E SE; Hurles, Matthew E ME; Zeggini, Eleftheria E; Barrett, Jeffrey C JC; Plagnol, Vincent V; Richards, J Brent JB; Greenwood, Celia M T CM; Timpson, Nicholas J NJ; Durbin, Richard R; Soranzo, Nicole N

Publication Date: 2015-10-01

Variant appearance in text: TSC2: Y1279X

PubMed Link: 26367797

Variant Present in the following documents:

• 41586_2015_BFnature14962_MOESM15_ESM.xlsx, sheet 16

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