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: 1100C>A; Thr367Asn; rs776402584

PubMed Link: 34253785

Variant Present in the following documents:

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

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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: rs776402584

PubMed Link: 34172528

Variant Present in the following documents:

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

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Prevalence and characteristics of hereditary non-polyposis colorectal cancer (HNPCC) syndrome in immigrant Asian colorectal cancer patients.

Bmc Cancer

Lee, Jasmine J; Xiao, Yin-Yi YY; Sun, Yan Yu YY; Balderacchi, Jasminka J; Clark, Bradley B; Desani, Jatin J; Kumar, Vivek V; Saverimuthu, Angela A; Win, Khin Than KT; Huang, Yiwu Y; Xu, Yiqing Y

Publication Date: 2017-12-13

Variant appearance in text: MLH1: 1100C>A

PubMed Link: 29237405

Variant Present in the following documents:

• Main text
• 12885_2017_Article_3799.pdf

View BVdb publication page