Publications:

An EGFR L858R mutation identified in 1862 Chinese NSCLC patients can be a promising neoantigen vaccine therapeutic strategy.

Frontiers In Immunology

Lin, Jing J; Liu, Jun J; Hao, Shi-Guang SG; Lan, Bin B; Zheng, Xiao-Bin XB; Xiong, Jia-Ni JN; Zhang, Ying-Qian YQ; Gao, Xuan X; Chen, Chuan-Ben CB; Chen, Ling L; Huang, Yu-Fang YF; Luo, Hong H; Yi, Yu-Ting YT; Yi, Xin X; Lu, Jian-Ping JP; Zheng, Xiong-Wei XW; Chen, Gang G; Wang, Xue-Feng XF; Chen, Yu Y

Publication Date: 2022

Variant appearance in text: TSC2: 482C>T; A161V

PubMed Link: 36505399

Variant Present in the following documents:

• Table_2.xlsx, sheet 2

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Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China.

Bmc Medical Genomics

Liu, Jing J; Li, Zirong Z; Lu, Ting T; Pan, Junping J; Li, Li L; Song, Yanwen Y; Hu, Dan D; Zhuo, Yanhong Y; Chen, Ying Y; Xu, Qin Q

Publication Date: 2022-11-04

Variant appearance in text: TSC2: Ala161Val

PubMed Link: 36333792

Variant Present in the following documents:

• 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1

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Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.

Journal Of Medical Genetics

Dong, Xinran X; Liu, Bo B; Yang, Lin L; Wang, Huijun H; Wu, Bingbing B; Liu, Renchao R; Chen, Hongbo H; Chen, Xiang X; Yu, Sha S; Chen, Bin B; Wang, Sujuan S; Xu, Xiu X; Zhou, Wenhao W; Lu, Yulan Y

Publication Date: 2020-08

Variant appearance in text: TSC2: 482C>T; A161V

PubMed Link: 32005694

Variant Present in the following documents:

• jmedgenet-2019-106377supp005.pdf

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Structure of the Tuberous Sclerosis Complex 2 (TSC2) N Terminus Provides Insight into Complex Assembly and Tuberous Sclerosis Pathogenesis.

The Journal Of Biological Chemistry

Zech, Reinhard R; Kiontke, Stephan S; Mueller, Uwe U; Oeckinghaus, Andrea A; Kümmel, Daniel D

Publication Date: 2016-09-16

Variant appearance in text: TSC2: A161V

PubMed Link: 27493206

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: A161V

PubMed Link: 23514105

Variant Present in the following documents:

• 2040-2392-4-5-S5.xls, sheet 1

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