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: 2330G>A; Arg777Lys

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.

Breast Cancer Research : Bcr

Weber-Lassalle, Nana N; Hauke, Jan J; Ramser, Juliane J; Richters, Lisa L; Groß, Eva E; Blümcke, Britta B; Gehrig, Andrea A; Kahlert, Anne-Karin AK; Müller, Clemens R CR; Hackmann, Karl K; Honisch, Ellen E; Weber-Lassalle, Konstantin K; Niederacher, Dieter D; Borde, Julika J; Thiele, Holger H; Ernst, Corinna C; Altmüller, Janine J; Neidhardt, Guido G; Nürnberg, Peter P; Klaschik, Kristina K; Schroeder, Christopher C; Platzer, Konrad K; Volk, Alexander E AE; Wang-Gohrke, Shan S; Just, Walter W; Auber, Bernd B; Kubisch, Christian C; Schmidt, Gunnar G; Horvath, Judit J; Wappenschmidt, Barbara B; Engel, Christoph C; Arnold, Norbert N; Dworniczak, Bernd B; Rhiem, Kerstin K; Meindl, Alfons A; Schmutzler, Rita K RK; Hahnen, Eric E

Publication Date: 2018-01-24

Variant appearance in text: ATM: 2330G>A; Arg777His

PubMed Link: 29368626

Variant Present in the following documents:

• 13058_2018_935_MOESM1_ESM.pdf

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Nek family of kinases in cell cycle, checkpoint control and cancer.

Cell Division

Moniz, Larissa L; Dutt, Previn P; Haider, Nasir N; Stambolic, Vuk V

Publication Date: 2011-10-31

Variant appearance in text: ATM: R777K

PubMed Link: 22040655

Variant Present in the following documents:

• Main text
• 1747-1028-6-18.pdf

View BVdb publication page