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: 5228C>G; Thr1743Arg

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4

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Monogenic and polygenic inheritance become instruments for clonal selection.

Nature

Loh, Po-Ru PR; Genovese, Giulio G; McCarroll, Steven A SA

Publication Date: 2020-08

Variant appearance in text: rs587779844

PubMed Link: 32581363

Variant Present in the following documents:

• Main text
• NIHMS1587518-supplement-1587518_Supp_Tab1-23.pdf
• nihms-1587518.pdf

View BVdb publication page