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: 683dupT; Ile229Aspfs

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

Prevalence of mutations in BRCA and MMR genes in patients affected with hereditary endometrial cancer.

Medical Oncology (Northwood, London, England)

Vietri, Maria Teresa MT; D'Elia, Giovanna G; Caliendo, Gemma G; Casamassimi, Amelia A; Federico, Alessandro A; Passariello, Luana L; Cioffi, Michele M; Molinari, Anna Maria AM

Publication Date: 2021-01-23

Variant appearance in text: MLH1: 683dupT; Ile229Aspfs

PubMed Link: 33484353

Variant Present in the following documents:

• Main text
• 12032_2021_Article_1454.pdf
• 12032_2021_1454_MOESM1_ESM.pdf

View BVdb publication page