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: 1487C>A; Pro496His; rs63750226

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.

Journal Of Medical Genetics

Zhang, Li L; Qin, Zixin Z; Huang, Teng T; Tam, Benjamin B; Ruan, Yongsen Y; Guo, Maoni M; Wu, Xiaobing X; Li, Jiaheng J; Zhao, Bojin B; Chian, Jia Sheng JS; Wang, Xiaoyu X; Wang, Lei L; Wang, San Ming SM

Publication Date: 2022-07

Variant appearance in text: rs63750226

PubMed Link: 34172528

Variant Present in the following documents:

• jmedgenet-2021-107886supp003.xlsx, sheet 1

View BVdb publication page

Whole-Exome Sequencing of Nasopharyngeal Carcinoma Families Reveals Novel Variants Potentially Involved in Nasopharyngeal Carcinoma.

Scientific Reports

Yu, Guoqin G; Hsu, Wan-Lun WL; Coghill, Anna E AE; Yu, Kelly J KJ; Wang, Cheng-Ping CP; Lou, Pei-Jen PJ; Liu, Zhiwei Z; Jones, Kristie K; Vogt, Aurelie A; Wang, Mingyi M; Mbulaiteye, Sam M SM; Chen, Hao-Hui HH; Boland, Joseph J; Yeager, Meredith M; Diehl, Scott R SR; Chen, Chien-Jen CJ; Hildesheim, Allan A; Goldstein, Alisa M AM

Publication Date: 2019-07-09

Variant appearance in text: rs63750226

PubMed Link: 31289279

Variant Present in the following documents:

• 41598_2019_46137_MOESM1_ESM.pdf

View BVdb publication page

Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine

Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T

Publication Date: 2017-07-18

Variant appearance in text: rs63750226

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page