Publications:

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CfDNA Measurement as a Diagnostic Tool for the Detection of Brain Somatic Mutations in Refractory Epilepsy.

International Journal Of Molecular Sciences

Mayo, Sonia S; Gómez-Manjón, Irene I; Fernández-Martínez, Francisco Javier FJ; Camacho, Ana A; Martínez, Francisco F; Benito-León, Julián J

Publication Date: 2022-04-28

Variant appearance in text: TSC2: 2251C>T; Arg751Ter

PubMed Link: 35563270

Variant Present in the following documents:

• ijms-23-04879.pdf

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Cortical Dysplasia and the mTOR Pathway: How the Study of Human Brain Tissue Has Led to Insights into Epileptogenesis.

International Journal Of Molecular Sciences

Lee, Wei Shern WS; Baldassari, Sara S; Stephenson, Sarah E M SEM; Lockhart, Paul J PJ; Baulac, Stéphanie S; Leventer, Richard J RJ

Publication Date: 2022-01-25

Variant appearance in text: TSC2: 2251C>T

PubMed Link: 35163267

Variant Present in the following documents:

• Main text
• ijms-23-01344.pdf

View BVdb publication page

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Cortical Dysplasia and the mTOR Pathway: How the Study of Human Brain Tissue Has Led to Insights into Epileptogenesis.

International Journal Of Molecular Sciences

Lee, Wei Shern WS; Baldassari, Sara S; Stephenson, Sarah E M SEM; Lockhart, Paul J PJ; Baulac, Stéphanie S; Leventer, Richard J RJ

Publication Date: 2022-01-25

Variant appearance in text: TSC2: 2251C>T

PubMed Link: 35163267

Variant Present in the following documents:

• Main text
• ijms-23-01344.pdf

View BVdb publication page

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Landscape of driver gene events, biomarkers, and druggable targets identified by whole-genome sequencing of glioblastomas.

Neuro-Oncology Advances

van de Geer, Wesley S WS; Hoogstrate, Youri Y; Draaisma, Kaspar K; Robe, Pierre A PA; Bins, Sander S; Mathijssen, Ron H J RHJ; French, Pim P; van de Werken, Harmen J G HJG; de Vos, Filip Y F FYF

Publication Date: 2022

Variant appearance in text: TSC2: Arg751*

PubMed Link: 35047820

Variant Present in the following documents:

• vdab177_suppl_supplementary_data.xlsx, sheet 6

View BVdb publication page

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Low-Dose Everolimus Maintenance Therapy for Renal Angiomyolipoma Associated With Tuberous Sclerosis Complex.

Frontiers In Medicine

Luo, Cong C; Ye, Wen-Rui WR; Zu, Xiong-Bin XB; Chen, Min-Feng MF; Qi, Lin L; Li, Yang-Le YL; Cai, Yi Y

Publication Date: 2021

Variant appearance in text: TSC2: 2251C>T; Arg751*

PubMed Link: 34901059

Variant Present in the following documents:

• Main text
• fmed-08-744050.pdf

View BVdb publication page

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Rearrangement-mediated cis-regulatory alterations in advanced patient tumors reveal interactions with therapy.

Cell Reports

Zhang, Yiqun Y; Chen, Fengju F; Pleasance, Erin E; Williamson, Laura L; Grisdale, Cameron J CJ; Titmuss, Emma E; Laskin, Janessa J; Jones, Steven J M SJM; Cortes-Ciriano, Isidro I; Marra, Marco A MA; Creighton, Chad J CJ

Publication Date: 2021-11-16

Variant appearance in text: TSC2: 2251C>T; Arg751*

PubMed Link: 34788622

Variant Present in the following documents:

• NIHMS1757901-supplement-2.xlsx, sheet 3

View BVdb publication page

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225Actinium-labeled prostate-specific membrane antigen targeting peptide induces complete response in a metastatic prostate cancer patient.

Acta Radiologica Open

Aras, Omer O; Harmsen, Stefan S; Ting, Richard R; Sayman, Haluk B HB

Publication Date: 2021-05

Variant appearance in text: TSC2: R751*

PubMed Link: 34104479

Variant Present in the following documents:

• Main text
• 10.1177_20584601211022509.pdf

View BVdb publication page

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Evaluation of Hsp90 and mTOR inhibitors as potential drugs for the treatment of TSC1/TSC2 deficient cancer.

Plos One

Mrozek, Evelyn M EM; Bajaj, Vineeta V; Guo, Yanan Y; Malinowska, Izabela A IA; Zhang, Jianming J; Kwiatkowski, David J DJ

Publication Date: 2021

Variant appearance in text: TSC2: 2251C>T; Arg751*

PubMed Link: 33891611

Variant Present in the following documents:

• Main text

View BVdb publication page

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Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Molecular Neurobiology

Zhang, Yi Y; Wang, Tao T; Wang, Yan Y; Xia, Kun K; Li, Jinchen J; Sun, Zhongsheng Z

Publication Date: 2021-08

Variant appearance in text: TSC2: 2251C>T; R751X; rs45517222

PubMed Link: 33860439

Variant Present in the following documents:

• 12035_2021_2377_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: TSC2: 2251C>T; R751*

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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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: 2251C>T

PubMed Link: 32849516

Variant Present in the following documents:

• Main text
• fimmu-11-01515.pdf

View BVdb publication page

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Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging

Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D

Publication Date: 2020-07-07

Variant appearance in text: TSC2: 2251C>T

PubMed Link: 32639949

Variant Present in the following documents:

• aging-12-103115-s013..xlsx, sheet 1

View BVdb publication page

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Single-Cell Transcriptomic Analysis Identifies a Unique Pulmonary Lymphangioleiomyomatosis Cell.

American Journal Of Respiratory And Critical Care Medicine

Guo, Minzhe M; Yu, Jane J JJ; Perl, Anne Karina AK; Wikenheiser-Brokamp, Kathryn A KA; Riccetti, Matt M; Zhang, Erik Y EY; Sudha, Parvathi P; Adam, Mike M; Potter, Andrew A; Kopras, Elizabeth J EJ; Giannikou, Krinio K; Potter, S Steven SS; Sherman, Sue S; Hammes, Stephen R SR; Kwiatkowski, David J DJ; Whitsett, Jeffrey A JA; McCormack, Francis X FX; Xu, Yan Y

Publication Date: 2020-11-15

Variant appearance in text: TSC2: 2251C>T; Arg751*

PubMed Link: 32603599

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 2251C>T; Arg751*

PubMed Link: 32555378

Variant Present in the following documents:

• 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: 2251C>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: 2251C>T; R751*

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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Mutation spectrums of TSC1 and TSC2 in Chinese women with lymphangioleiomyomatosis (LAM).

Plos One

Liu, Jie J; Zhao, Weiwei W; Ou, Xiaohua X; Zhao, Zhen Z; Hu, Changming C; Sun, Mingming M; Liu, Feifei F; Deng, Junhao J; Gu, Weili W; An, Jiaying J; Zhang, Qingling Q; Zhang, Xiaoxian X; Xie, Jiaxing J; Li, Shiyue S; Chen, Rongchang R; Yu, Shihui S; Zhong, Nanshan N

Publication Date: 2019

Variant appearance in text: TSC2: 2251C>T; Arg751*

PubMed Link: 31856217

Variant Present in the following documents:

• pone.0226400.s004.xlsx, sheet 4
• pone.0226400.s008.xlsx, sheet 1

View BVdb publication page

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Generalised mosaicism for TSC2 mutation in isolated lymphangioleiomyomatosis.

The European Respiratory Journal

Ogórek, Barbara B; Hamieh, Lana L; Lasseter, Kathryn K; Bagwe, Shefali S; Machado, Tania T; Herranz-Ors, Carmen C; Thorner, Aaron R AR; Nag, Anwesha A; Gulleman, Peter P; Giannikou, Krinio K; Young, Lisa R LR; Pujana, Miquel Àngel MÀ; Darling, Thomas N TN; El-Chemaly, Souheil S; Moss, Joel J; Henske, Elizabeth P EP; Kwiatkowski, David J DJ

Publication Date: 2019-10

Variant appearance in text: TSC2: 2251C>T; Arg751*

PubMed Link: 31273045

Variant Present in the following documents:

• Main text

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: 2251C>T; Arg751Ter

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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Phenotypic distinctions between mosaic forms of tuberous sclerosis complex.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Treichel, Alison M AM; Hamieh, Lana L; Nathan, Neera R NR; Tyburczy, Magdalena E ME; Wang, Ji-An JA; Oyerinde, Oyetewa O; Raiciulescu, Sorana S; Julien-Williams, Patricia P; Jones, Amanda M AM; Gopalakrishnan, Vissaagan V; Moss, Joel J; Kwiatkowski, David J DJ; Darling, Thomas N TN

Publication Date: 2019-11

Variant appearance in text: TSC2: 2251C>T; Arg751*

PubMed Link: 31114024

Variant Present in the following documents:

• Main text
• nihms-1662901.pdf

View BVdb publication page

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Brain Somatic Mutations in Epileptic Disorders.

Molecules And Cells

Koh, Hyun Yong HY; Lee, Jeong Ho JH

Publication Date: 2018-10-31

Variant appearance in text: TSC2: 2251C>T

PubMed Link: 30352490

Variant Present in the following documents:

• Main text
• molce-41-10-881.pdf

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: 2251C>T

PubMed Link: 29642139

Variant Present in the following documents:

• Main text
• medi-97-e0112.pdf

View BVdb publication page

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Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias.

Cell Reports

D'Gama, Alissa M AM; Woodworth, Mollie B MB; Hossain, Amer A AA; Bizzotto, Sara S; Hatem, Nicole E NE; LaCoursiere, Christopher M CM; Najm, Imad I; Ying, Zhong Z; Yang, Edward E; Barkovich, A James AJ; Kwiatkowski, David J DJ; Vinters, Harry V HV; Madsen, Joseph R JR; Mathern, Gary W GW; Blümcke, Ingmar I; Poduri, Annapurna A; Walsh, Christopher A CA

Publication Date: 2017-12-26

Variant appearance in text: TSC2: R751*

PubMed Link: 29281825

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: 2251C>T; R751*

PubMed Link: 29221145

Variant Present in the following documents:

• Main text
• oncotarget-08-95516.pdf

View BVdb publication page

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The genomic landscape of tuberous sclerosis complex.

Nature Communications

Martin, Katie R KR; Zhou, Wanding W; Bowman, Megan J MJ; Shih, Juliann J; Au, Kit Sing KS; Dittenhafer-Reed, Kristin E KE; Sisson, Kellie A KA; Koeman, Julie J; Weisenberger, Daniel J DJ; Cottingham, Sandra L SL; DeRoos, Steven T ST; Devinsky, Orrin O; Winn, Mary E ME; Cherniack, Andrew D AD; Shen, Hui H; Northrup, Hope H; Krueger, Darcy A DA; MacKeigan, Jeffrey P JP

Publication Date: 2017-06-15

Variant appearance in text: TSC2: 2251C>T; Arg751Ter

PubMed Link: 28643795

Variant Present in the following documents:

• ncomms15816-s3.xlsx, sheet 1

View BVdb publication page

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NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.

Molecular Oncology

Cirenajwis, Helena H; Lauss, Martin M; Ekedahl, Henrik H; Törngren, Therese T; Kvist, Anders A; Saal, Lao H LH; Olsson, Håkan H; Staaf, Johan J; Carneiro, Ana A; Ingvar, Christian C; Harbst, Katja K; Hayward, Nicholas K NK; Jönsson, Göran G

Publication Date: 2017-04

Variant appearance in text: TSC2: 2251C>T; R751*

PubMed Link: 28267273

Variant Present in the following documents:

• MOL2-11-438-s003.xls, sheet 1

View BVdb publication page

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Catenin delta-1 (CTNND1) phosphorylation controls the mesenchymal to epithelial transition in astrocytic tumors.

Human Molecular Genetics

Yang, Jin J; Bassuk, Alexander G AG; Merl-Pham, Juliane J; Hsu, Chun-Wei CW; Colgan, Diana F DF; Li, Xiaorong X; Au, Kit Sing KS; Zhang, Lijuan L; Smemo, Scott S; Justus, Sally S; Nagahama, Yasunori Y; Grossbach, Andrew J AJ; Howard, Matthew A MA; Kawasaki, Hiroto H; Feldstein, Neil A NA; Dobyns, William B WB; Northrup, Hope H; Hauck, Stefanie M SM; Ueffing, Marius M; Mahajan, Vinit B VB; Tsang, Stephen H SH

Publication Date: 2016-10-01

Variant appearance in text: TSC2: 2251C>T; Arg751Ter

PubMed Link: 27516388

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: TSC2: 2251C>T; R751*

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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Insight into response to mTOR inhibition when PKD1 and TSC2 are mutated.

Bmc Medical Genetics

Cabrera-López, Cristina C; Bullich, Gemma G; Martí, Teresa T; Català, Violeta V; Ballarín, Jose J; Bissler, John J JJ; Harris, Peter C PC; Ars, Elisabet E; Torra, Roser R

Publication Date: 2015-06-17

Variant appearance in text: TSC2: Arg751*

PubMed Link: 26077033

Variant Present in the following documents:

• Main text
• 12881_2015_Article_185.pdf

View BVdb publication page

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Genomic characterization of a large panel of patient-derived hepatocellular carcinoma xenograft tumor models for preclinical development.

Oncotarget

Gu, Qingyang Q; Zhang, Bin B; Sun, Hongye H; Xu, Qiang Q; Tan, Yexiong Y; Wang, Guan G; Luo, Qin Q; Xu, Weiguo W; Yang, Shuqun S; Li, Jian J; Fu, Jing J; Chen, Lei L; Yuan, Shengxian S; Liang, Guibai G; Ji, Qunsheng Q; Chen, Shu-Hui SH; Chan, Chi-Chung CC; Zhou, Weiping W; Xu, Xiaowei X; Wang, Hongyang H; Fang, Douglas D DD

Publication Date: 2015-08-21

Variant appearance in text: TSC2: R751X; rs45517222

PubMed Link: 26062443

Variant Present in the following documents:

• oncotarget-06-20160-s004.xlsx, sheet 1

View BVdb publication page

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Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2.

European Journal Of Human Genetics : Ejhg

Kwiatkowski, David J DJ; Palmer, Michael R MR; Jozwiak, Sergiusz S; Bissler, John J; Franz, David D; Segal, Scott S; Chen, David D; Sampson, Julian R JR

Publication Date: 2015-12

Variant appearance in text: TSC2: 2251C>T; Arg751*

PubMed Link: 25782670

Variant Present in the following documents:

• ejhg201547x1.xls, sheet 1
• ejhg201547x2.xls, sheet 1

View BVdb publication page

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Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex.

Human Molecular Genetics

Tyburczy, Magdalena E ME; Wang, Ji-An JA; Li, Shaowei S; Thangapazham, Rajesh R; Chekaluk, Yvonne Y; Moss, Joel J; Kwiatkowski, David J DJ; Darling, Thomas N TN

Publication Date: 2014-04-15

Variant appearance in text: TSC2: R751*

PubMed Link: 24271014

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.

Bmc Medical Genetics

Hung, Chia-Cheng CC; Su, Yi-Ning YN; Chien, Shu-Chin SC; Liou, Horng-Huei HH; Chen, Chih-Chuan CC; Chen, Pau-Chung PC; Hsieh, Chia-Jung CJ; Chen, Chih-Ping CP; Lee, Wang-Tso WT; Lin, Win-Li WL; Lee, Chien-Nan CN

Publication Date: 2006-09-18

Variant appearance in text: TSC2: 2251C>T; R751X

PubMed Link: 16981987

Variant Present in the following documents:

• Main text
• 1471-2350-7-72.pdf

View BVdb publication page

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