Publications:

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Application of Trio-Whole Exome Sequencing in Genetic Diagnosis and Therapy in Chinese Children With Epilepsy.

Frontiers In Molecular Neuroscience

Jiang, Tiejia T; Gao, Jia J; Jiang, Lihua L; Xu, Lu L; Zhao, Congying C; Su, Xiaojun X; Shen, Yaping Y; Gu, Weiyue W; Kong, Xiaohong X; Yang, Ying Y; Gao, Feng F

Publication Date: 2021

Variant appearance in text: TSC2: 4925G>A; G1642D

PubMed Link: 34489640

Variant Present in the following documents:

• Main text
• fnmol-14-699574.pdf

View BVdb publication page

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A pediatric brain tumor atlas of genes deregulated by somatic genomic rearrangement.

Nature Communications

Zhang, Yiqun Y; Chen, Fengju F; Donehower, Lawrence A LA; Scheurer, Michael E ME; Creighton, Chad J CJ

Publication Date: 2021-02-10

Variant appearance in text: TSC2: 4925G>A; Gly1642Asp; rs137854343

PubMed Link: 33568653

Variant Present in the following documents:

• 41467_2021_21081_MOESM8_ESM.xlsx, sheet 3

View BVdb publication page

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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: G1642D

PubMed Link: 33307091

Variant Present in the following documents:

• mmc1.pdf

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mTORC1 Is Not Principally Involved in the Induction of Human Endotoxin Tolerance.

Frontiers In Immunology

Ludwig, Kristin K; Husain, Ralf A RA; Rubio, Ignacio I

Publication Date: 2020

Variant appearance in text: TSC2: 4925G>A

PubMed Link: 32849516

Variant Present in the following documents:

• Main text
• fimmu-11-01515.pdf

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Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex.

Scientific Reports

Rosengren, Thomas T; Nanhoe, Santoesha S; de Almeida, Luis Gustavo Dufner LGD; Schönewolf-Greulich, Bitten B; Larsen, Lasse Jonsgaard LJ; Hey, Caroline Amalie Brunbjerg CAB; Dunø, Morten M; Ek, Jakob J; Risom, Lotte L; Nellist, Mark M; Møller, Lisbeth Birk LB

Publication Date: 2020-06-18

Variant appearance in text: TSC2: Gly1642Asp

PubMed Link: 32555378

Variant Present in the following documents:

• Main text
• 41598_2020_Article_66588.pdf
• 41598_2020_66588_MOESM1_ESM.pdf

View BVdb publication page

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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: 4925G>A

PubMed Link: 31927531

Variant Present in the following documents:

• aging-12-102654-s001..xlsx, sheet 1

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Two novel TSC2 mutations in pediatric patients with tuberous sclerosis complex: Case report.

Medicine

Gao, Shan S; Wang, Zhiling Z; Xie, Yongmei Y

Publication Date: 2018-07

Variant appearance in text: TSC2: 4925G>A

PubMed Link: 30024541

Variant Present in the following documents:

• Main text
• medi-97-e11533.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: G1642D

PubMed Link: 23514105

Variant Present in the following documents:

• 2040-2392-4-5-S5.xls, sheet 1

View BVdb publication page

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