Publications:

Phenotypic distinctions between mosaic forms of tuberous sclerosis complex.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Treichel, Alison M AM; Hamieh, Lana L; Nathan, Neera R NR; Tyburczy, Magdalena E ME; Wang, Ji-An JA; Oyerinde, Oyetewa O; Raiciulescu, Sorana S; Julien-Williams, Patricia P; Jones, Amanda M AM; Gopalakrishnan, Vissaagan V; Moss, Joel J; Kwiatkowski, David J DJ; Darling, Thomas N TN

Publication Date: 2019-11

Variant appearance in text: TSC2: 5034C>G; Tyr1678*

PubMed Link: 31114024

Variant Present in the following documents:

• Main text
• nihms-1662901.pdf

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Characteristics of genomic alterations of lung adenocarcinoma in young never-smokers.

International Journal Of Cancer

Luo, Wenxin W; Tian, Panwen P; Wang, Yue Y; Xu, Heng H; Chen, Lu L; Tang, Chao C; Shu, Yang Y; Zhang, Shouyue S; Wang, Zhoufeng Z; Zhang, Jun J; Zhang, Li L; Jiang, Lili L; Liu, Lunxu L; Che, Guowei G; Guo, Chenglin C; Zhang, Hong H; Wang, Jiali J; Li, Weimin W

Publication Date: 2018-10-01

Variant appearance in text: rs45467993

PubMed Link: 29667179

Variant Present in the following documents:

• IJC-143-1696-s009.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: 5034C>G; Tyr1678Ter

PubMed Link: 28643795

Variant Present in the following documents:

• ncomms15816-s3.xlsx, sheet 1

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