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Mutation scanning by meltMADGE: validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population.
Alharbi KK, Aldahmesh MA, Spanakis E, Haddad L, Whittall RA, Chen XH, Rassoulian H, Smith MJ, Sillibourne J, Ball NJ, Graham NJ, Briggs PJ, Simpson IA, Phillips DI, Lawlor DA, Ye S, Humphries SE, Cooper C, Smith GD, Ebrahim S, Eccles DM, Day IN. Alharbi KK, et al. Among authors: lawlor da. Genome Res. 2005 Jul;15(7):967-77. doi: 10.1101/gr.3313405. Genome Res. 2005. PMID: 15998910 Free PMC article.
1,041 results