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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Detalhes bibliográficos
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
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2010
Assuntos:
Biological Sciences
Acesso em linha: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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