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Genotype-phenotype correlation

Definition(s)

The association between the presence of a certain mutation or mutations (genotype) and the resulting physical trait, abnormality, or pattern of abnormalities (phenotype). With respect to genetic testing, the frequency with which a certain phenotype is observed in the presence of a specific genotype determines the positive predictive value of the test.: Definition from: GeneReviews from the University of Washington and the National Center for Biotechnology Information


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