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: 101T>A; Val34Glu

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: V34E

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Fluconazole and Echinocandin Resistance of Candida glabrata Correlates Better with Antifungal Drug Exposure Rather than with MSH2 Mutator Genotype in a French Cohort of Patients Harboring Low Rates of Resistance.

Frontiers In Microbiology

Dellière, Sarah S; Healey, Kelley K; Gits-Muselli, Maud M; Carrara, Bastien B; Barbaro, Alessandro A; Guigue, Nicolas N; Lecefel, Christophe C; Touratier, Sophie S; Desnos-Ollivier, Marie M; Perlin, David S DS; Bretagne, Stéphane S; Alanio, Alexandre A

Publication Date: 2016

Variant appearance in text: MSH2: V34E

PubMed Link: 28066361

Variant Present in the following documents:

• Main text
• fmicb-07-02038.pdf

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Functional analysis of human mismatch repair gene mutations identifies weak alleles and polymorphisms capable of polygenic interactions.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Martinez, Sandra L SL; Kolodner, Richard D RD

Publication Date: 2010-03-16

Variant appearance in text: MSH2: V34E

PubMed Link: 20176959

Variant Present in the following documents:

• Main text

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