Article
Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.
Proceedings of the National Academy of Sciences of the United States of America - 8 Jun 2010
Zaghloul Norann A, Liu Yangjian, Gerdes Jantje M, Gascue Cecilia, Oh Edwin C, Leitch Carmen C, Bromberg Yana, Binkley Jonathan, Leibel Rudolph L, Sidow Arend, Badano Jose L, Katsanis Nicholas
Abstract excerpt
Technological advances hold the promise of rapidly catalyzing the discovery of pathogenic variants for genetic disease. However, this possibility is tempered by limitations in interpreting the functional consequences of genetic variation at candidate loci. Here, we present a systematic approach, grounded on physiologically relevant assays, to evaluate the mutational content (125 alleles) of the 14 genes...
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