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: 6901G>A; Ala2301Thr

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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Somatic mutation detection using various targeted detection assays in paired samples of circulating tumor DNA, primary tumor and metastases from patients undergoing resection of colorectal liver metastases.

Molecular Oncology

Beije, Nick N; Helmijr, Jean C JC; Weerts, Marjolein J A MJA; Beaufort, Corine M CM; Wiggin, Matthew M; Marziali, Andre A; Verhoef, Cornelis C; Sleijfer, Stefan S; Jansen, Maurice P H M MPHM; Martens, John W M JWM

Publication Date: 2016-12

Variant appearance in text: ATM: A2301T

PubMed Link: 28949453

Variant Present in the following documents:

• Main text

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