Publications:

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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: R1200P

PubMed Link: 33307091

Variant Present in the following documents:

• mmc1.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: 3599G>C

PubMed Link: 31927531

Variant Present in the following documents:

• aging-12-102654-s001..xlsx, sheet 1

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Whole exome sequencing identifies a novel intron heterozygous mutation in TSC2 responsible for tuberous sclerosis complex.

Scientific Reports

Ye, Yicong Y; Zeng, Yong Y

Publication Date: 2019-03-14

Variant appearance in text: TSC2: 3599G>C

PubMed Link: 30872599

Variant Present in the following documents:

• Main text
• 41598_2019_Article_38898.pdf

View BVdb publication page

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A Novel Mutation in TSC2 Gene: A 34-Year-Old Female with Pulmonary Lymphangioleiomyomatosis with Concomitant Hepatic Lesions.

Case Reports In Pulmonology

Nadiri, Mehdi M; Raeisi, Mortaza M; Mousavi Aghdas, Seyed Ali SA

Publication Date: 2018

Variant appearance in text: TSC2: 3599G>C

PubMed Link: 29666741

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 3599G>C

PubMed Link: 29642139

Variant Present in the following documents:

• Main text
• medi-97-e0112.pdf

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Severe bleeding complications and multiple kidney transplants in a patient with tuberous sclerosis complex caused by a novel TSC2 missense variant.

Croatian Medical Journal

Živčić-Ćosić, Stela S; Mayer, Karin K; Đorđević, Gordana G; Nellist, Mark M; Hoogeveen-Westerveld, Marianne M; Miletić, Damir D; Rački, Sanjin S; Klein, Hanns-Georg HG; Trobonjača, Zlatko Z

Publication Date: 2017-12-31

Variant appearance in text: TSC2: 3599G>C

PubMed Link: 29308833

Variant Present in the following documents:

• Main text

View BVdb publication page

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Subependymal giant cell astrocytomas in Tuberous Sclerosis Complex have consistent TSC1/TSC2 biallelic inactivation, and no BRAF mutations.

Oncotarget

Bongaarts, Anika A; Giannikou, Krinio K; Reinten, Roy J RJ; Anink, Jasper J JJ; Mills, James D JD; Jansen, Floor E FE; Spliet, G M Wim GMW; den Dunnen, Willfred F A WFA; Coras, Roland R; Blümcke, Ingmar I; Paulus, Werner W; Scholl, Theresa T; Feucht, Martha M; Kotulska, Katarzyna K; Jozwiak, Sergiusz S; Buccoliero, Anna Maria AM; Caporalini, Chiara C; Giordano, Flavio F; Genitori, Lorenzo L; Söylemezoğlu, Figen F; Pimentel, José J; Nellist, Mark M; Schouten-van Meeteren, Antoinette Y N AYN; Nag, Anwesha A; Mühlebner, Angelika A; Kwiatkowski, David J DJ; Aronica, Eleonora E

Publication Date: 2017-11-10

Variant appearance in text: TSC2: 3599G>C

PubMed Link: 29221145

Variant Present in the following documents:

• Main text
• oncotarget-08-95516.pdf

View BVdb publication page

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