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: 4471T>G; F1491V

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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Pathogenic Germline Variants in Patients With Metastatic Breast Cancer.

Jama Oncology

Stuttgen, Kelsey K; Croessmann, Sarah S; Fetting, John J; Stearns, Vered V; Nunes, Raquel R; Connolly, Roisin M RM; Park, Ben Ho BH

Publication Date: 2019-10-01

Variant appearance in text: ATM: 4471T>G; Phe1491Val

PubMed Link: 31465090

Variant Present in the following documents:

• Main text

View BVdb publication page