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: 3442C>T; Gln1148Ter

PubMed Link: 28643795

Variant Present in the following documents:

• ncomms15816-s3.xlsx, sheet 1

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Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex.

Human Molecular Genetics

Tyburczy, Magdalena E ME; Wang, Ji-An JA; Li, Shaowei S; Thangapazham, Rajesh R; Chekaluk, Yvonne Y; Moss, Joel J; Kwiatkowski, David J DJ; Darling, Thomas N TN

Publication Date: 2014-04-15

Variant appearance in text: TSC2: Q1148*

PubMed Link: 24271014

Variant Present in the following documents:

• Main text

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Analysis of TSC cortical tubers by deep sequencing of TSC1, TSC2 and KRAS demonstrates that small second-hit mutations in these genes are rare events.

Brain Pathology (Zurich, Switzerland)

Qin, Wei W; Chan, Jennifer A JA; Vinters, Harry V HV; Mathern, Gary W GW; Franz, David N DN; Taillon, Bruce E BE; Bouffard, Pascal P; Kwiatkowski, David J DJ

Publication Date: 2010-11

Variant appearance in text: TSC2: Q1148X

PubMed Link: 20633017

Variant Present in the following documents:

• Main text

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