title: Key mendelian variants.
abstract: Genetic comparison of the effects of mutant and wild-type alleles is a powerful way to define gene function. But those few disease-causing variants that provide qualitatively different insights into the disease mechanisms of more common sporadic diseases have the greatest translational value.
mesh_terms: D006801:Humans; D020961:Lewy Body Disease / Q000235:genetics* / Q000473:pathology*; D020734:Parkinsonian Disorders / Q000235:genetics* / Q000473:pathology*