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Characterization of MSH2 variants by endogenous gene modification in mouse embryonic stem cells.
Hum Mutat. 2011 Apr;32(4):389-96. doi: 10.1002/humu.21448. Epub 2011 Mar 8.
Hum Mutat. 2011.
PMID: 21309037
Free article.
Functional analysis in mouse embryonic stem cells reveals wild-type activity for three MSH6 variants found in suspected Lynch syndrome patients.
Wielders EA, Houlleberghs H, Isik G, te Riele H.
Wielders EA, et al.
PLoS One. 2013 Sep 10;8(9):e74766. doi: 10.1371/journal.pone.0074766. eCollection 2013.
PLoS One. 2013.
PMID: 24040339
Free PMC article.
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Functional analysis of MSH2 unclassified variants found in suspected Lynch syndrome patients reveals pathogenicity due to attenuated mismatch repair.
Wielders EA, Hettinger J, Dekker R, Kets CM, Ligtenberg MJ, Mensenkamp AR, van den Ouweland AM, Prins J, Wagner A, Dinjens WN, Dubbink HJ, van Hest LP, Menko F, Hogervorst F, Verhoef S, te Riele H.
Wielders EA, et al.
J Med Genet. 2014 Apr;51(4):245-53. doi: 10.1136/jmedgenet-2013-101987. Epub 2014 Feb 5.
J Med Genet. 2014.
PMID: 24501230
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