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: HNPCC2: S420C

PubMed Link: 34253785

Variant Present in the following documents:

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

View BVdb publication page

Identification of KIAA1018/FAN1, a DNA repair nuclease recruited to DNA damage by monoubiquitinated FANCD2.

Cell

MacKay, Craig C; Déclais, Anne-Cécile AC; Lundin, Cecilia C; Agostinho, Ana A; Deans, Andrew J AJ; MacArtney, Thomas J TJ; Hofmann, Kay K; Gartner, Anton A; West, Stephen C SC; Helleday, Thomas T; Lilley, David M J DM; Rouse, John J

Publication Date: 2010-07-09

Variant appearance in text: MLH1: S420C

PubMed Link: 20603015

Variant Present in the following documents:

• Main text

View BVdb publication page