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: SMARCA4: 1534G>T; E512*

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 9
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10

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Functional characterization of SMARCA4 variants identified by targeted exome-sequencing of 131,668 cancer patients.

Nature Communications

Fernando, Tharu M TM; Piskol, Robert R; Bainer, Russell R; Sokol, Ethan S ES; Trabucco, Sally E SE; Zhang, Qing Q; Trinh, Huong H; Maund, Sophia S; Kschonsak, Marc M; Chaudhuri, Subhra S; Modrusan, Zora Z; Januario, Thomas T; Yauch, Robert L RL

Publication Date: 2020-11-03

Variant appearance in text: SMARCA4: E512*

PubMed Link: 33144586

Variant Present in the following documents:

• 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1

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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: SMARCA4: E512*

PubMed Link: 32461694

Variant Present in the following documents:

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

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