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: 323G>C; Gly108Ala

PubMed Link: 34906453

Variant Present in the following documents:

• mmc1.xlsx, sheet 3

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Increased hypermutation at G and C nucleotides in immunoglobulin variable genes from mice deficient in the MSH2 mismatch repair protein.

The Journal Of Experimental Medicine

Phung, Q H QH; Winter, D B DB; Cranston, A A; Tarone, R E RE; Bohr, V A VA; Fishel, R R; Gearhart, P J PJ

Publication Date: 1998-06-01

Variant appearance in text: MSH2: G108A

PubMed Link: 9607916

Variant Present in the following documents:

• 98-0368.pdf

View BVdb publication page