title: Variation on a theme: identifying sequence variation in disease genes and defining pathogenicity.
authors.forename: Lorraine N
authors.initials: LN
authors.lastname: Clark
mesh_terms: D002352:Carrier Proteins / Q000235:genetics; D002874:Chromosome Mapping / Q000379:methods* / Q000639:trends; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods / Q000639:trends; D006580:Genetic Carrier Screening / Q000379:methods; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics*; D014644:Genetic Variation / Q000235:genetics*; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D010300:Parkinson Disease / Q000208:ethnology / Q000235:genetics* / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide / Q000235:genetics
chemical_list: D002352:Carrier Proteins; C478016:GIGYF2 protein, human