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Genetic heterogeneity
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phenomenon in which a single phenotype or genetic disorder may be caused by any one of a multiple number of alleles or non-allele (locus) mutations; diseases that result from multiple gene abnormalities

Genetic heterogeneity refers to different genetic causes for the same disease and can be classified into three types: allelic heterogeneity, locus heterogeneity, and phenotypic heterogeneity. Allelic heterogeneity occurs when different mutations within the same gene lead to the same disease. For example, multiple mutations in the CFTR gene cause...