Publications:

Identification of a novel heterozygous TSC2 splicing variant in a patient with Tuberous sclerosis complex: A case report.

Medicine

Liu, Linli L; Yu, Chunshui C; Yan, Gaowu G

Publication Date: 2022-01-21

Variant appearance in text: TSC2: 3610G>A

PubMed Link: 35060563

Variant Present in the following documents:

• Main text
• medi-101-e28666.pdf

View BVdb publication page

Identification of a novel heterozygous TSC2 splicing variant in a patient with Tuberous sclerosis complex: A case report.

Medicine

Liu, Linli L; Yu, Chunshui C; Yan, Gaowu G

Publication Date: 2022-01-21

Variant appearance in text: TSC2: 3610G>A

PubMed Link: 35060563

Variant Present in the following documents:

• Main text
• medi-101-e28666.pdf

View BVdb publication page

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: 3610G>A

PubMed Link: 31927531

Variant Present in the following documents:

• aging-12-102654-s001..xlsx, sheet 1

View BVdb publication page

Identification of a novel TSC2 c.3610G > A, p.G1204R mutation contribute to aberrant splicing in a patient with classical tuberous sclerosis complex: a case report.

Bmc Medical Genetics

Zhang, Ruixiao R; Wang, Jianhong J; Wang, Qing Q; Han, Yue Y; Liu, Xuejun X; Bottillo, Irene I; Lang, Yanhua Y; Shao, Leping L

Publication Date: 2018-09-20

Variant appearance in text: TSC2: 3610G>A

PubMed Link: 30236073

Variant Present in the following documents:

• Main text
• 12881_2018_Article_686.pdf

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: G1204R

PubMed Link: 23514105

Variant Present in the following documents:

• 2040-2392-4-5-S5.xls, sheet 1

View BVdb publication page