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: Y1650C

PubMed Link: 33307091

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics

Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F

Publication Date: 2019-07-25

Variant appearance in text: TSC2: Y1650C

PubMed Link: 31345222

Variant Present in the following documents:

• 12920_2019_543_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Exceptional response to everolimus in a novel tuberous sclerosis complex-2 mutation-associated metastatic renal-cell carcinoma.

Cold Spring Harbor Molecular Case Studies

Alsidawi, Samer S; Kasi, Pashtoon Murtaza PM

Publication Date: 2018-04

Variant appearance in text: TSC2: 4949A>G

PubMed Link: 29610387

Variant Present in the following documents:

• Main text
• MCS002220Als.pdf

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: Y1650C

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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: Y1650C

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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Candidate single nucleotide polymorphism markers for arsenic responsiveness of protein targets.

Bioinformatics And Biology Insights

Isokpehi, Raphael D RD; Cohly, Hari H P HH; Anyanwu, Matthew N MN; Rajnarayanan, Rajendram V RV; Tchounwou, Paul B PB; Udensi, Udensi K UK; Graham-Evans, Barbara E BE

Publication Date: 2010-10-11

Variant appearance in text: TSC2: Y1650C

PubMed Link: 20981267

Variant Present in the following documents:

• BBI-4-supplementary.xls, sheet 4

View BVdb publication page

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