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: POLE: 3881G>T; Arg1294Leu; rs115455318

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

Advanced adenomas may be a red flag for hereditary cancer syndromes.

Hereditary Cancer In Clinical Practice

Patel, Swati G SG; Hampel, Heather H; Smith, Derek D; Gao, Dexiang D; Cockburn, Myles M; Kastrinos, Fay F

Publication Date: 2021-01-12

Variant appearance in text: POLE: 3881G>T

PubMed Link: 33436027

Variant Present in the following documents:

• 13053_2020_Article_164.pdf

View BVdb publication page