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However, there are cases of individuals exhibiting symptoms even though they are heterozygous for a single pathogenic variant allele
347 ADH-6 stabilizes the p53 R248W mutant by interacting with the p53 core domain, preventing the formation of these aggregates
10.1111/j.1365-2125.2005.02396.x 197 van GelderJ.DefermeS.NaesensL.De ClercqE.van den MooterG.KingetR.et al (2002)
