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Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein.
Gastroenterology. 2006 Nov;131(5):1408-17. doi: 10.1053/j.gastro.2006.08.044. Epub 2006 Aug 22.
Gastroenterology. 2006.
PMID: 17101317
Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).
Chao EC, Velasquez JL, Witherspoon MS, Rozek LS, Peel D, Ng P, Gruber SB, Watson P, Rennert G, Anton-Culver H, Lynch H, Lipkin SM.
Chao EC, et al.
Hum Mutat. 2008 Jun;29(6):852-60. doi: 10.1002/humu.20735.
Hum Mutat. 2008.
PMID: 18383312
Free article.
Item in Clipboard
Mechanisms of pathogenicity in human MSH2 missense mutants.
Ollila S, Dermadi Bebek D, Jiricny J, Nyström M.
Ollila S, et al.
Hum Mutat. 2008 Nov;29(11):1355-63. doi: 10.1002/humu.20893.
Hum Mutat. 2008.
PMID: 18951462
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Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.
Kansikas M, Kariola R, Nyström M.
Kansikas M, et al.
Hum Mutat. 2011 Jan;32(1):107-15. doi: 10.1002/humu.21409.
Hum Mutat. 2011.
PMID: 21120944
Free PMC article.
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Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants.
Houlleberghs H, Dekker M, Lantermans H, Kleinendorst R, Dubbink HJ, Hofstra RM, Verhoef S, Te Riele H.
Houlleberghs H, et al.
Proc Natl Acad Sci U S A. 2016 Apr 12;113(15):4128-33. doi: 10.1073/pnas.1520813113. Epub 2016 Mar 7.
Proc Natl Acad Sci U S A. 2016.
PMID: 26951660
Free PMC article.
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A germline missense mutation in exon 3 of the MSH2 gene in a Lynch syndrome family: correlation with phenotype and localization assay.
Bianchi F, Maccaroni E, Belvederesi L, Brugiati C, Giampieri R, Bini F, Bracci R, Pagliaretta S, Del Prete M, Piva F, Mandolesi A, Scarpelli M, Berardi R.
Bianchi F, et al.
Fam Cancer. 2018 Apr;17(2):215-224. doi: 10.1007/s10689-017-0030-x.
Fam Cancer. 2018.
PMID: 28785832
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Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk.
Jia X, Burugula BB, Chen V, Lemons RM, Jayakody S, Maksutova M, Kitzman JO.
Jia X, et al.
Am J Hum Genet. 2021 Jan 7;108(1):163-175. doi: 10.1016/j.ajhg.2020.12.003. Epub 2020 Dec 23.
Am J Hum Genet. 2021.
PMID: 33357406
Free PMC article.
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