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: 1282A>G; Lys428Glu; rs761822293

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

Comprehensive mismatch repair gene panel identifies variants in patients with Lynch-like syndrome.

Molecular Genetics & Genomic Medicine

Xavier, Alexandre A; Olsen, Maren Fridtjofsen MF; Lavik, Liss A LA; Johansen, Jostein J; Singh, Ashish Kumar AK; Sjursen, Wenche W; Scott, Rodney J RJ; Talseth-Palmer, Bente A BA

Publication Date: 2019-08

Variant appearance in text: MSH6: Lys428Glu; rs761822293

PubMed Link: 31297992

Variant Present in the following documents:

• Main text
• MGG3-7-e850.pdf

View BVdb publication page