Publications:

The genomic landscape of tuberous sclerosis complex.

Nature Communications

Martin, Katie R KR; Zhou, Wanding W; Bowman, Megan J MJ; Shih, Juliann J; Au, Kit Sing KS; Dittenhafer-Reed, Kristin E KE; Sisson, Kellie A KA; Koeman, Julie J; Weisenberger, Daniel J DJ; Cottingham, Sandra L SL; DeRoos, Steven T ST; Devinsky, Orrin O; Winn, Mary E ME; Cherniack, Andrew D AD; Shen, Hui H; Northrup, Hope H; Krueger, Darcy A DA; MacKeigan, Jeffrey P JP

Publication Date: 2017-06-15

Variant appearance in text: TSC2: 1255C>T; Pro419Ser

PubMed Link: 28643795

Variant Present in the following documents:

• ncomms15816-s3.xlsx, sheet 1

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NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.

Molecular Oncology

Cirenajwis, Helena H; Lauss, Martin M; Ekedahl, Henrik H; Törngren, Therese T; Kvist, Anders A; Saal, Lao H LH; Olsson, Håkan H; Staaf, Johan J; Carneiro, Ana A; Ingvar, Christian C; Harbst, Katja K; Hayward, Nicholas K NK; Jönsson, Göran G

Publication Date: 2017-04

Variant appearance in text: TSC2: 1255C>T; P419S

PubMed Link: 28267273

Variant Present in the following documents:

• MOL2-11-438-s003.xls, sheet 1

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Tuberous sclerosis complex inactivation disrupts melanogenesis via mTORC1 activation.

The Journal Of Clinical Investigation

Cao, Juxiang J; Tyburczy, Magdalena E ME; Moss, Joel J; Darling, Thomas N TN; Widlund, Hans R HR; Kwiatkowski, David J DJ

Publication Date: 2017-01-03

Variant appearance in text: TSC2: P419S

PubMed Link: 27918305

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: P419S

PubMed Link: 23514105

Variant Present in the following documents:

• 2040-2392-4-5-S5.xls, sheet 1

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S6K1 regulates GSK3 under conditions of mTOR-dependent feedback inhibition of Akt.

Molecular Cell

Zhang, Hui H HH; Lipovsky, Alex I AI; Dibble, Christian C CC; Sahin, Mustafa M; Manning, Brendan D BD

Publication Date: 2006-10-20

Variant appearance in text: TSC2: P419S

PubMed Link: 17052453

Variant Present in the following documents:

• Main text

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