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: 487G>C; Val163Leu

PubMed Link: 34906453

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

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PD-L1 Expressing Recurrent Clear Cell Carcinoma of the Vulva with Durable Partial Response to Pembrolizumab: A Case Report.

Oncotargets And Therapy

Sachdeva, Manavi M; Ngoi, Natalie Y L NYL; Lim, Diana D; Poon, Michelle L M MLM; Thian, Yee Liang YL; Lim, Yi Wan YW; Lim, Siew Eng SE; Tong, Pearl P; Lum, Jeffrey H Y JHY; Ng, Joseph J; Ilancheran, Arunachalam A; Domingo, Efren J EJ; Low, Jeffrey J H JJH; Tan, David S P DSP

Publication Date: 2021

Variant appearance in text: MSH2: V163L

PubMed Link: 34234460

Variant Present in the following documents:

• Main text

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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: V163L

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page