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: MLH1: 37del; E13Rfs*4

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10

View BVdb publication page

Some aspects of molecular diagnostics in Lynch syndrome.

Hereditary Cancer In Clinical Practice

Kurzawski, Grzegorz G

Publication Date: 2006-12-15

Variant appearance in text: MLH1: 37delG

PubMed Link: 20223024

Variant Present in the following documents:

• Main text
• 1897-4287-4-4-197.pdf

View BVdb publication page