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: 721A>G; K241E; rs587778447

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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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: K241E

PubMed Link: 30770470

Variant Present in the following documents:

• Main text

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Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One

Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE

Publication Date: 2014

Variant appearance in text: MLH1: K241E

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

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