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: HNPCC2: V24L

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

Intussusception secondary to signet ring cell adenocarcinoma in adolescent.

Radiology Case Reports

Thibodeau, Ryan R; Jafroodifar, Abtin A; Bakrukov, Dmitriy D; Alkukhun, Leen L; Mirchia, Kavya K; Majmudar, Anand A; Gupta, Saurabh S; Hanumaiah, Ravikumar R

Publication Date: 2021-05

Variant appearance in text: MLH1: 70G>C

PubMed Link: 33815641

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page