Publications:

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Phase and context shape the function of composite oncogenic mutations.

Nature

Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS

Publication Date: 2020-06

Variant appearance in text: TERT: T644M

PubMed Link: 32461694

Variant Present in the following documents:

• NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2

View BVdb publication page

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The Spectrum of Hepatic Involvement in Patients With Telomere Disease.

Hepatology (Baltimore, Md.)

Kapuria, Devika D; Ben-Yakov, Gil G; Ortolano, Rebecca R; Cho, Min Ho MH; Kalchiem-Dekel, Or O; Takyar, Varun V; Lingala, Shilpa S; Gara, Naveen N; Tana, Michele M; Kim, Yun Ju YJ; Kleiner, David E DE; Young, Neal S NS; Townsley, Danielle M DM; Koh, Christopher C; Heller, Theo T

Publication Date: 2019-06

Variant appearance in text: TERT: 1931C>T; Thr644Met

PubMed Link: 30791107

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pathogenic TERT promoter variants in telomere diseases.

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

Gutierrez-Rodrigues, Fernanda F; Donaires, Flávia S FS; Pinto, André A; Vicente, Alana A; Dillon, Laura W LW; Clé, Diego V DV; Santana, Barbara A BA; Pirooznia, Mehdi M; Ibanez, Maria Del Pilar F MDPF; Townsley, Danielle M DM; Kajigaya, Sachiko S; Hourigan, Christopher S CS; Cooper, James N JN; Calado, Rodrigo T RT; Young, Neal S NS

Publication Date: 2019-07

Variant appearance in text: TERT: 1931C>T; T644M

PubMed Link: 30523342

Variant Present in the following documents:

• 41436_2018_385_MOESM1_ESM.pdf

View BVdb publication page

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NF1 mutations in conjunctival melanoma.

British Journal Of Cancer

Scholz, S L SL; Cosgarea, I I; Süßkind, D D; Murali, R R; Möller, I I; Reis, H H; Leonardelli, S S; Schilling, B B; Schimming, T T; Hadaschik, E E; Franklin, C C; Paschen, A A; Sucker, A A; Steuhl, K P KP; Schadendorf, D D; Westekemper, H H; Griewank, K G KG

Publication Date: 2018-05

Variant appearance in text: TERT: 1931C>T; Thr644Met

PubMed Link: 29559732

Variant Present in the following documents:

• 41416_2018_46_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Type II enteropathy-associated T-cell lymphoma features a unique genomic profile with highly recurrent SETD2 alterations.

Nature Communications

Roberti, Annalisa A; Dobay, Maria Pamela MP; Bisig, Bettina B; Vallois, David D; Boéchat, Cloé C; Lanitis, Evripidis E; Bouchindhomme, Brigitte B; Parrens, Marie-Cécile MC; Bossard, Céline C; Quintanilla-Martinez, Leticia L; Missiaglia, Edoardo E; Gaulard, Philippe P; de Leval, Laurence L

Publication Date: 2016-09-07

Variant appearance in text: TERT: T644M; rs201927653

PubMed Link: 27600764

Variant Present in the following documents:

• ncomms12602-s2.xlsx, sheet 1

View BVdb publication page

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Characterization of population-based variation and putative functional elements for the multiple-cancer susceptibility loci at 5p15.33.

F1000Research

Mirabello, Lisa L; Chung, Charles C CC; Yeager, Meredith M; Savage, Sharon A SA

Publication Date: 2014

Variant appearance in text: rs201927653

PubMed Link: 26664699

Variant Present in the following documents:

• f1000research-3-5532.pdf

View BVdb publication page

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