Publications:

Architecture of the Tuberous Sclerosis Protein Complex.

Journal Of Molecular Biology

Ramlaul, Kailash K; Fu, Wencheng W; Li, Hua H; de Martin Garrido, Natàlia N; He, Lin L; Trivedi, Manjari M; Cui, Wei W; Aylett, Christopher H S CHS; Wu, Geng G

Publication Date: 2021-01-22

Variant appearance in text: TSC2: R1743L

PubMed Link: 33307091

Variant Present in the following documents:

• mmc1.pdf

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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: 5228G>T

PubMed Link: 31927531

Variant Present in the following documents:

• aging-12-102654-s001..xlsx, sheet 1

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Antenatal screening and diagnosis of tuberous sclerosis complex by fetal echocardiography and targeted genomic sequencing.

Medicine

Gu, Xiaoyan X; Han, Ling L; Chen, Jian J; Wang, Jianbin J; Hao, Xiaoyan X; Zhang, Ye Y; Zhang, Jun J; Ge, Shuping S; He, Yihua Y

Publication Date: 2018-04

Variant appearance in text: TSC2: 5228G>T

PubMed Link: 29642139

Variant Present in the following documents:

• Main text
• medi-97-e0112.pdf

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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: R1743L

PubMed Link: 23514105

Variant Present in the following documents:

• 2040-2392-4-5-S5.xls, sheet 1

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