Publications:

Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Loong, Lucy L; Cubuk, Cankut C; Choi, Subin S; Allen, Sophie S; Torr, Beth B; Garrett, Alice A; Loveday, Chey C; Durkie, Miranda M; Callaway, Alison A; Burghel, George J GJ; Drummond, James J; Robinson, Rachel R; Berry, Ian R IR; Wallace, Andrew A; Eccles, Diana M DM; Tischkowitz, Marc M; Ellard, Sian S; Ware, James S JS; Hanson, Helen H; Turnbull, Clare C; ,

Publication Date: 2022-03

Variant appearance in text: MSH2: 190A>G; I64V

PubMed Link: 34906453

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: MSH2: I64V

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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DNA Repair Molecular Beacon assay: a platform for real-time functional analysis of cellular DNA repair capacity.

Oncotarget

Li, Jianfeng J; Svilar, David D; McClellan, Steven S; Kim, Jung-Hyun JH; Ahn, Eun-Young Erin EE; Vens, Conchita C; Wilson, David M DM; Sobol, Robert W RW

Publication Date: 2018-08-03

Variant appearance in text: MSH2: I64V

PubMed Link: 30167090

Variant Present in the following documents:

• Main text
• oncotarget-09-31719.pdf

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Exploiting the Ref-1-APE1 node in cancer signaling and other diseases: from bench to clinic.

Npj Precision Oncology

Shah, Fenil F; Logsdon, Derek D; Messmann, Richard A RA; Fehrenbacher, Jill C JC; Fishel, Melissa L ML; Kelley, Mark R MR

Publication Date: 2017

Variant appearance in text: MSH2: I64V

PubMed Link: 28825044

Variant Present in the following documents:

• Main text

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