Publications:

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Gene mutations in sporadic lymphangioleiomyomatosis and genotype-phenotype correlation analysis.

Bmc Pulmonary Medicine

Huang, Jiannan J; Xu, Wenshuai W; Liu, Peng P; Liu, Yaping Y; Shen, Cheng C; Liu, Song S; Wang, Yani Y; Wang, Jun J; Zhang, Tengyue T; He, Yudi Y; Cheng, Chongsheng C; Yang, Luning L; Zhang, Weihong W; Tian, Xinlun X; Xu, Kai-Feng KF

Publication Date: 2022-09-18

Variant appearance in text: TSC2: 3028C>T; Q1010X

PubMed Link: 36117164

Variant Present in the following documents:

• 12890_2022_2154_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

Jama Oncology

Cobain, Erin F EF; Wu, Yi-Mi YM; Vats, Pankaj P; Chugh, Rashmi R; Worden, Francis F; Smith, David C DC; Schuetze, Scott M SM; Zalupski, Mark M MM; Sahai, Vaibhav V; Alva, Ajjai A; Schott, Anne F AF; Caram, Megan E V MEV; Hayes, Daniel F DF; Stoffel, Elena M EM; Jacobs, Michelle F MF; Kumar-Sinha, Chandan C; Cao, Xuhong X; Wang, Rui R; Lucas, David D; Ning, Yu Y; Rabban, Erica E; Bell, Janice J; Camelo-Piragua, Sandra S; Udager, Aaron M AM; Cieslik, Marcin M; Lonigro, Robert J RJ; Kunju, Lakshmi P LP; Robinson, Dan R DR; Talpaz, Moshe M; Chinnaiyan, Arul M AM

Publication Date: 2021-04-01

Variant appearance in text: TSC2: Q1010*

PubMed Link: 33630025

Variant Present in the following documents:

• jamaoncol-e207987-s004.xlsx, sheet 2

View BVdb publication page

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A novel TSC1 variant associated with tuberous sclerosis and sacrococcygeal teratoma.

Human Genome Variation

Ahmad, Saba S; Manon, Luis L; Bhat, Gifty G; Machado, Jerry J; Zalan, Alice A; Mata-Machado, Nikolas N; Garzon, Steven S; Yoshii, Akira A

Publication Date: 2020-11-19

Variant appearance in text: TSC2: Gln1010*

PubMed Link: 33298910

Variant Present in the following documents:

• Main text
• 41439_2020_Article_124.pdf

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Extreme intratumour heterogeneity and driver evolution in mismatch repair deficient gastro-oesophageal cancer.

Nature Communications

von Loga, Katharina K; Woolston, Andrew A; Punta, Marco M; Barber, Louise J LJ; Griffiths, Beatrice B; Semiannikova, Maria M; Spain, Georgia G; Challoner, Benjamin B; Fenwick, Kerry K; Simon, Ronald R; Marx, Andreas A; Sauter, Guido G; Lise, Stefano S; Matthews, Nik N; Gerlinger, Marco M

Publication Date: 2020-01-16

Variant appearance in text: TSC2: Q1010X

PubMed Link: 31949146

Variant Present in the following documents:

• 41467_2019_13915_MOESM4_ESM.xlsx, sheet 4

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: 3028C>T

PubMed Link: 31927531

Variant Present in the following documents:

• aging-12-102654-s001..xlsx, sheet 1

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Chordoma Occurs in Young Children With Tuberous Sclerosis.

Journal Of Neuropathology And Experimental Neurology

Dahl, Nathan A NA; Luebbert, Timothy T; Loi, Michele M; Neuberger, Ilana I; Handler, Michael H MH; Kleinschmidt-DeMasters, Bette Kay BK; Mulcahy Levy, Jean M JM

Publication Date: 2017-06-01

Variant appearance in text: TSC2: Q1010X

PubMed Link: 28498973

Variant Present in the following documents:

• Main text

View BVdb publication page

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Dichotomy of Genetic Abnormalities in PEComas With Therapeutic Implications.

The American Journal Of Surgical Pathology

Agaram, Narasimhan P NP; Sung, Yun-Shao YS; Zhang, Lei L; Chen, Chun-Liang CL; Chen, Hsiao-Wei HW; Singer, Samuel S; Dickson, Mark A MA; Berger, Michael F MF; Antonescu, Cristina R CR

Publication Date: 2015-06

Variant appearance in text: TSC2: Q1010*

PubMed Link: 25651471

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical features distinguish childhood chordoma associated with tuberous sclerosis complex (TSC) from chordoma in the general paediatric population.

Journal Of Medical Genetics

McMaster, Mary L ML; Goldstein, Alisa M AM; Parry, Dilys M DM

Publication Date: 2011-07

Variant appearance in text: TSC2: Q1010X

PubMed Link: 21266383

Variant Present in the following documents:

• Main text

View BVdb publication page

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