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: 9151G>C; Gly3051Arg; rs730881332

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

Identification of Altered Genes in Gallbladder Cancer as Potential Driver Mutations for Diagnostic and Prognostic Purposes: A Computational Approach.

Cancer Informatics

D'Afonseca, Vívian V; Arencibia, Ariel D AD; Echeverría-Vega, Alex A; Cerpa, Leslie L; Cayún, Juan P JP; Varela, Nelson M NM; Salazar, Marcela M; Quiñones, Luis A LA

Publication Date: 2020

Variant appearance in text: ATM: G3051R

PubMed Link: 32546937

Variant Present in the following documents:

• Main text
• 10.1177_1176935120922154.pdf

View BVdb publication page