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: 760A>G; N254D

PubMed Link: 34906453

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

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Targeted sequencing reveals the mutational landscape responsible for sorafenib therapy in advanced hepatocellular carcinoma.

Theranostics

Tang, Jing J; Sui, Cheng-Jun CJ; Wang, Dong-Fang DF; Lu, Xin-Yuan XY; Luo, Gui-Juan GJ; Zhao, Qing Q; Lian, Qiu-Yu QY; Jeong, Seogsong S; Lin, Xi-Meng XM; Zhu, Yan-Jing YJ; Zheng, Bo B; Wu, Rui R; Wang, Qing Q; Liu, Xiao-Long XL; Liu, Jing-Feng JF; Xia, Qiang Q; Wu, Gang G; Gu, Jin J; Wang, Hong-Yang HY; Chen, Lei L

Publication Date: 2020

Variant appearance in text: MSH2: N254D

PubMed Link: 32373219

Variant Present in the following documents:

• thnov10p5384s2.xlsx, sheet 6
• thnov10p5384s2.xlsx, sheet 5

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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: N254D

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page