Publications:

Germline mutation of TSC1 or TSC2 gene in Chinese patients with bilateral renal angiomyolipomas and mutation spectrum of Chinese TSC patients.

Aging

Jiangyi, Wang W; Gang, Guo G; Guohai, Shi S; Dingwei, Ye Y

Publication Date: 2020-01-12

Variant appearance in text: TSC2: 246G>A

PubMed Link: 31927531

Variant Present in the following documents:

• aging-12-102654-s001..xlsx, sheet 1

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: TSC2: 246G>A; Trp82Ter

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

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Renal cell carcinoma harboring somatic TSC2 mutations in a child with methylmalonic acidemia.

Pediatric Blood & Cancer

Potter, Samara L SL; Venkatramani, Rajkumar R; Wenderfer, Scott S; Graham, Brett H BH; Vasudevan, Sanjeev A SA; Sher, Andrew A; Wu, Hao H; Wheeler, David A DA; Yang, Yaping Y; Eng, Christine M CM; Gibbs, Richard A RA; Roy, Angshumoy A; Plon, Sharon E SE; Parsons, D Williams DW

Publication Date: 2017-05

Variant appearance in text: TSC2: 246G>A

PubMed Link: 27748010

Variant Present in the following documents:

• Main text

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