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: G62E

PubMed Link: 23514105

Variant Present in the following documents:

• 2040-2392-4-5-S5.xls, sheet 1

View BVdb publication page

A reliable cell-based assay for testing unclassified TSC2 gene variants.

European Journal Of Human Genetics : Ejhg

Coevoets, Ricardo R; Arican, Sermin S; Hoogeveen-Westerveld, Marianne M; Simons, Erik E; van den Ouweland, Ans A; Halley, Dicky D; Nellist, Mark M

Publication Date: 2009-03

Variant appearance in text: TSC2: G62E

PubMed Link: 18854862

Variant Present in the following documents:

• Main text

View BVdb publication page