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: K33R

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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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: MLH1: 98A>G; Lys33Arg

PubMed Link: 34172528

Variant Present in the following documents:

• jmedgenet-2021-107886supp003.xlsx, sheet 1
• jmedgenet-2021-107886supp010.xlsx, sheet 1

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HDAC6 regulates DNA damage response via deacetylating MLH1.

The Journal Of Biological Chemistry

Zhang, Mu M; Hu, Chen C; Moses, Niko N; Haakenson, Joshua J; Xiang, Shengyan S; Quan, Daniel D; Fang, Bin B; Yang, Zhe Z; Bai, Wenlong W; Bepler, Gerold G; Li, Guo-Min GM; Zhang, Xiaohong Mary XM

Publication Date: 2019-04-12

Variant appearance in text: MLH1: K33R

PubMed Link: 30770470

Variant Present in the following documents:

• Main text

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