Publications:

Notch transactivates Rheb to maintain the multipotency of TSC-null cells.

Nature Communications

Cho, Jun-Hung JH; Patel, Bhaumik B; Bonala, Santosh S; Manne, Sasikanth S; Zhou, Yan Y; Vadrevu, Surya K SK; Patel, Jalpa J; Peronaci, Marco M; Ghouse, Shanawaz S; Henske, Elizabeth P EP; Roegiers, Fabrice F; Giannikou, Krinio K; Kwiatkowski, David J DJ; Mansouri, Hossein H; Markiewski, Maciej M MM; White, Brandon B; Karbowniczek, Magdalena M

Publication Date: 2017-11-29

Variant appearance in text: TSC2: 4081_4085delCGAGT

PubMed Link: 29184052

Variant Present in the following documents:

• Main text
• 41467_2017_1845_MOESM2_ESM.pdf
• 41467_2017_Article_1845.pdf

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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: 4081_4085del

PubMed Link: 28643795

Variant Present in the following documents:

• ncomms15816-s3.xlsx, sheet 1

View BVdb publication page