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: PARP1: 370A>G; Thr124Ala; rs139924814

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

Interaction of germline variants in a family with a history of early-onset clear cell renal cell carcinoma.

Molecular Genetics & Genomic Medicine

Nicolas, Emmanuelle E; Demidova, Elena V EV; Iqbal, Waleed W; Serebriiskii, Ilya G IG; Vlasenkova, Ramilia R; Ghatalia, Pooja P; Zhou, Yan Y; Rainey, Kim K; Forman, Andrea F AF; Dunbrack, Roland L RL; Golemis, Erica A EA; Hall, Michael J MJ; Daly, Mary B MB; Arora, Sanjeevani S

Publication Date: 2019-03

Variant appearance in text: PARP1: Thr124Ala; rs139924814

PubMed Link: 30680959

Variant Present in the following documents:

• Main text
• MGG3-7-na-s003.xlsx, sheet 5
• MGG3-7-na.pdf
• MGG3-7-na-s003.xlsx, sheet 4
• MGG3-7-na-s003.xlsx, sheet 1
• MGG3-7-na-s003.xlsx, sheet 3

View BVdb publication page