Publications:

A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: ATM: 1195C>T; H399Y

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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Mutational profile of primary breast diffuse large B-cell lymphoma.

Oncotarget

Franco, Fernando F; González-Rincón, Julia J; Lavernia, Javier J; García, Juan F JF; Martín, Paloma P; Bellas, Carmen C; Piris, Miguel A MA; Pedrosa, Lucia L; Miramón, José J; Gómez-Codina, José J; Rodríguez-Abreu, Delvys D; Machado, Isidro I; Illueca, Carmen C; Alfaro, Jesús J; Provencio, Mariano M; Sánchez-Beato, Margarita M

Publication Date: 2017-11-28

Variant appearance in text: ATM: H399Y

PubMed Link: 29262531

Variant Present in the following documents:

• Main text
• oncotarget-08-102888-s001.xlsx, sheet 1

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Somatic mutations in salivary duct carcinoma and potential therapeutic targets.

Oncotarget

Khoo, Timothy K TK; Yu, Bing B; Smith, Joel A JA; Clarke, Angus J AJ; Luk, Peter P PP; Selinger, Christina I CI; Mahon, Kate L KL; Kraitsek, Spiridoula S; Palme, Carsten C; Boyer, Michael J MJ; Dinger, Marcel E ME; Cowley, Mark J MJ; O'Toole, Sandra A SA; Clark, Jonathan R JR; Gupta, Ruta R

Publication Date: 2017-09-29

Variant appearance in text: ATM: 1195C>T

PubMed Link: 29100278

Variant Present in the following documents:

View BVdb publication page