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: 3011G>A; Ser1004Asn

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10

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Genetic alterations associated with progression from pancreatic intraepithelial neoplasia to invasive pancreatic tumor.

Gastroenterology

Murphy, Stephen J SJ; Hart, Steven N SN; Lima, Joema Felipe JF; Kipp, Benjamin R BR; Klebig, Mitchell M; Winters, Jennifer L JL; Szabo, Csilla C; Zhang, Lizhi L; Eckloff, Bruce W BW; Petersen, Gloria M GM; Scherer, Steven E SE; Gibbs, Richard A RA; McWilliams, Robert R RR; Vasmatzis, George G; Couch, Fergus J FJ

Publication Date: 2013-11

Variant appearance in text: ATM: S1004N

PubMed Link: 23912084

Variant Present in the following documents:

• Main text

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