Publications:

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Beyond Protein Synthesis; The Multifaceted Roles of Tuberin in Cell Cycle Regulation.

Frontiers In Cell And Developmental Biology

Fidalgo da Silva, E E; Fong, J J; Roye-Azar, A A; Nadi, A A; Drouillard, C C; Pillon, A A; Porter, L A LA

Publication Date: 2021

Variant appearance in text: TSC2: N525S

PubMed Link: 35096832

Variant Present in the following documents:

• Main text
• fcell-09-806521.pdf

View BVdb publication page

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Durvalumab with platinum-pemetrexed for unresectable pleural mesothelioma: survival, genomic and immunologic analyses from the phase 2 PrE0505 trial.

Nature Medicine

Forde, Patrick M PM; Anagnostou, Valsamo V; Sun, Zhuoxin Z; Dahlberg, Suzanne E SE; Kindler, Hedy L HL; Niknafs, Noushin N; Purcell, Thomas T; Santana-Davila, Rafael R; Dudek, Arkadiusz Z AZ; Borghaei, Hossein H; Lanis, Mara M; Belcaid, Zineb Z; Smith, Kellie N KN; Balan, Archana A; White, James R JR; Cherry, Christopher C; Ashok Sivakumar, I K IK; Shao, Xiaoshan M XM; Chan, Hok Yee HY; Singh, Dipika D; Thapa, Sampriti S; Illei, Peter B PB; Pardoll, Drew M DM; Karchin, Rachel R; Velculescu, Victor E VE; Brahmer, Julie R JR; Ramalingam, Suresh S SS

Publication Date: 2021-11

Variant appearance in text: TSC2: N525S

PubMed Link: 34750557

Variant Present in the following documents:

• 41591_2021_1541_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: TSC2: 1574A>G; N525S

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Toward automation of germline variant curation in clinical cancer genetics.

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

Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J

Publication Date: 2019-09

Variant appearance in text: TSC2: 1574A>G; Asn525Ser

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: TSC2: 1574A>G; Asn525Ser

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: TSC2: N525S

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Transgenic expression of the N525S-tuberin variant in Tsc2 mutant (Eker) rats causes dominant embryonic lethality.

Scientific Reports

Shiono, Masatoshi M; Kobayashi, Toshiyuki T; Takahashi, Riichi R; Ueda, Masatsugu M; Ishioka, Chikashi C; Hino, Okio O

Publication Date: 2014-08-04

Variant appearance in text: TSC2: N525S

PubMed Link: 25088526

Variant Present in the following documents:

• Main text
• srep05927.pdf
• srep05927-s1.pdf

View BVdb publication page

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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: N525S

PubMed Link: 23514105

Variant Present in the following documents:

• 2040-2392-4-5-S5.xls, sheet 1

View BVdb publication page

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Genetics and molecular biology of tuberous sclerosis complex.

Current Genomics

Napolioni, Valerio V; Curatolo, Paolo P

Publication Date: 2008-11

Variant appearance in text: tuberin: N525S

PubMed Link: 19506736

Variant Present in the following documents:

• Main text
• CG-9-475.pdf

View BVdb publication page

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