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: MSH6: 723dup; Ser242Terfs

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer.

Hereditary Cancer In Clinical Practice

Talseth-Palmer, Bente A BA; McPhillips, Mary M; Groombridge, Claire C; Spigelman, Allan A; Scott, Rodney J RJ

Publication Date: 2010-05-21

Variant appearance in text: MSH6: 723dupT

PubMed Link: 20487569

Variant Present in the following documents:

• Main text
• 1897-4287-8-5.pdf

View BVdb publication page