Publications:

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Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex.

The Journal Of Clinical Investigation

Klonowska, Katarzyna K; Grevelink, Joannes M JM; Giannikou, Krinio K; Ogorek, Barbara A BA; Herbert, Zachary T ZT; Thorner, Aaron R AR; Darling, Thomas N TN; Moss, Joel J; Kwiatkowski, David J DJ

Publication Date: 2022-05-16

Variant appearance in text: TSC2: 4183C>T; Gln1395*

PubMed Link: 35358092

Variant Present in the following documents:

• jci-132-155858-s186.xlsx, sheet 1

View BVdb publication page

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Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean.

American Journal Of Medical Genetics. Part A

Verberne, Eline A EA; Westermann, Jonne M JM; de Vries, Tamar I TI; Ecury-Goossen, Ginette M GM; Lo-A-Njoe, Shirley M SM; Manshande, Meindert E ME; Faries, Sonja S; Veenhuis, Hans D HD; Philippi, Patricia P; Falix, Farah A FA; Rosina-Angelista, Irsa I; Ponson-Wever, Maria M; Rafael-Croes, Louise L; Thorsen, Patricia P; Arends, Eric E; de Vroomen, Maartje M; Nagelkerke, Sietse Q SQ; Tilanus, Martijn M; van der Veken, Lars T LT; Huijsdens-van Amsterdam, Karin K; van der Kevie-Kersemaekers, Anne-Marie AM; Alders, Mariëlle M; Mannens, Marcel M A M MMAM; van Haelst, Mieke M MM

Publication Date: 2022-06

Variant appearance in text: TSC2: Gln1395*

PubMed Link: 35253369

Variant Present in the following documents:

• Main text
• AJMG-188-1777.pdf

View BVdb publication page

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Downregulated GPR30 expression in the epileptogenic foci of female patients with focal cortical dysplasia type IIb and tuberous sclerosis complex is correlated with 18 F-FDG PET-CT values.

Brain Pathology (Zurich, Switzerland)

Wang, Zhongke Z; Huang, Kaixuan K; Yang, Xiaolin X; Shen, Kaifeng K; Yang, Ling L; Ruan, Ruotong R; Shi, Xianjun X; Wang, Miao M; Zhu, Gang G; Yang, Meihua M; Zhang, Chunqing C; Lv, Shengqing S; Yang, Hui H; Fan, Xiaotang X; Liu, Shiyong S

Publication Date: 2021-03

Variant appearance in text: TSC2: Q1395X

PubMed Link: 33314369

Variant Present in the following documents:

• Main text
• BPA-31-346.pdf

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: TSC2: Q1395*

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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: 4183C>T

PubMed Link: 31927531

Variant Present in the following documents:

• aging-12-102654-s001..xlsx, sheet 1

View BVdb publication page

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: TSC2: 4183C>T; Q1395*

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: TSC2: 4183C>T; Gln1395Ter

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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