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: 2447C>T

PubMed Link: 31927531

Variant Present in the following documents:

• aging-12-102654-s001..xlsx, sheet 1

View BVdb publication page

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: 2447C>T

PubMed Link: 29642139

Variant Present in the following documents:

• Main text
• medi-97-e0112.pdf

View BVdb publication page

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: TSC2: P816L

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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: P816L

PubMed Link: 23514105

Variant Present in the following documents:

• 2040-2392-4-5-S5.xls, sheet 1

View BVdb publication page