Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet–Biedl syndrome

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, gro...

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Bibliografiske detaljer
Main Authors: 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
Format: Artigo
Sprog:Inglês
Udgivet: National Academy of Sciences 2010
Fag:
Biological Sciences
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2890780/
https://ncbi.nlm.nih.gov/pubmed/20498079
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1000219107
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