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: K164E

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5

View BVdb publication page

A comprehensive DNA panel next generation sequencing approach supporting diagnostics and therapy prediction in neurooncology.

Acta Neuropathologica Communications

Lorenz, Julia J; Rothhammer-Hampl, Tanja T; Zoubaa, Saida S; Bumes, Elisabeth E; Pukrop, Tobias T; Kölbl, Oliver O; Corbacioglu, Selim S; Schmidt, Nils O NO; Proescholdt, Martin M; Hau, Peter P; Riemenschneider, Markus J MJ

Publication Date: 2020-08-05

Variant appearance in text: MLH1: K164E

PubMed Link: 32758285

Variant Present in the following documents:

• 40478_2020_1000_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

Mutations in the MutSalpha interaction interface of MLH1 can abolish DNA mismatch repair.

Nucleic Acids Research

Plotz, Guido G; Welsch, Christoph C; Giron-Monzon, Luis L; Friedhoff, Peter P; Albrecht, Mario M; Piiper, Albrecht A; Biondi, Ricardo M RM; Lengauer, Thomas T; Zeuzem, Stefan S; Raedle, Jochen J

Publication Date: 2006

Variant appearance in text: MLH1: K164E

PubMed Link: 17135187

Variant Present in the following documents:

• Main text

View BVdb publication page