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: 604delG; Ala202Leufs

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

Systematic study on genetic and epimutational profile of a cohort of Amsterdam criteria-defined Lynch Syndrome in Singapore.

Plos One

Liu, Yanqun Y; Chew, Min Hoe MH; Goh, Xue Wei XW; Tan, Soo Yong SY; Loi, Carol Tien Tau CT; Tan, Yuen Ming YM; Law, Hai Yang HY; Koh, Poh Koon PK; Tang, Choong Leong CL

Publication Date: 2014

Variant appearance in text: MLH1: 604delG; Ala202LeufsX27

PubMed Link: 24710284

Variant Present in the following documents:

• Main text
• pone.0094170.pdf

View BVdb publication page