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: E674K

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

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Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Plos Genetics

Yehia, Lamis L; Ni, Ying Y; Sesock, Kaitlin K; Niazi, Farshad F; Fletcher, Benjamin B; Chen, Hannah Jin Lian HJL; LaFramboise, Thomas T; Eng, Charis C

Publication Date: 2018-04

Variant appearance in text: MLH1: E674K

PubMed Link: 29684080

Variant Present in the following documents:

• pgen.1007352.s010.xlsx, sheet 1

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Sensing and Processing of DNA Interstrand Crosslinks by the Mismatch Repair Pathway.

Cell Reports

Kato, Niyo N; Kawasoe, Yoshitaka Y; Williams, Hannah H; Coates, Elena E; Roy, Upasana U; Shi, Yuqian Y; Beese, Lorena S LS; Schärer, Orlando D OD; Yan, Hong H; Gottesman, Max E ME; Takahashi, Tatsuro S TS; Gautier, Jean J

Publication Date: 2017-10-31

Variant appearance in text: MLH1: E674K

PubMed Link: 29091773

Variant Present in the following documents:

• Main text

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