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The Norwegian PMS2 founder mutation c.989-1G > T shows high penetrance of microsatellite instable cancers with normal immunohistochemistry.
Grindedal EM, Aarset H, Bjørnevoll I, Røyset E, Mæhle L, Stormorken A, Heramb C, Medvik H, Møller P, Sjursen W. Grindedal EM, et al. Among authors: royset e. Hered Cancer Clin Pract. 2014 Apr 21;12(1):12. doi: 10.1186/1897-4287-12-12. eCollection 2014. Hered Cancer Clin Pract. 2014. PMID: 24790682 Free PMC article.
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