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Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.
Raevaara TE, Korhonen MK, Lohi H, Hampel H, Lynch E, Lönnqvist KE, Holinski-Feder E, Sutter C, McKinnon W, Duraisamy S, Gerdes AM, Peltomäki P, Kohonen-Ccorish M, Mangold E, Macrae F, Greenblatt M, de la Chapelle A, Nyström M. Raevaara TE, et al. Gastroenterology. 2005 Aug;129(2):537-49. doi: 10.1016/j.gastro.2005.06.005. Gastroenterology. 2005. PMID: 16083711
Assessment of functional effects of unclassified genetic variants.
Couch FJ, Rasmussen LJ, Hofstra R, Monteiro AN, Greenblatt MS, de Wind N; IARC Unclassified Genetic Variants Working Group. Couch FJ, et al. Hum Mutat. 2008 Nov;29(11):1314-26. doi: 10.1002/humu.20899. Hum Mutat. 2008. PMID: 18951449 Free PMC article.