Publications:

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: E412V

PubMed Link: 23514105

Variant Present in the following documents:

• 2040-2392-4-5-S5.xls, sheet 1

View BVdb publication page

Bladder tumour-derived somatic TSC1 missense mutations cause loss of function via distinct mechanisms.

Human Molecular Genetics

Pymar, Louis S LS; Platt, Fiona M FM; Askham, Jon M JM; Morrison, Ewan E EE; Knowles, Margaret A MA

Publication Date: 2008-07-01

Variant appearance in text: TSC2: E412V

PubMed Link: 18397877

Variant Present in the following documents:

• Main text
• ddn098.pdf

View BVdb publication page