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Article

Predicting the pathogenicity of<i>RPE65</i>mutations

8 Apr 2009

Abstract excerpt

To assist in distinguishing disease-causing mutations from nonpathogenic polymorphisms, we developed an objective algorithm to calculate an "estimate of pathogenic probability" (EPP) based on the prevalence of a specific variation, its segregation within families, and its predicted effects on protein structure. Eleven missense variations in the RPE65 gene were evaluated in patients with Leber congenital amaurosis...

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PMID: 19431183
DOI: 10.1002/humu.21033

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