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The ciliopathies: A transitional model into systems biology of human genetic disease

The last decade has witnessed an explosion in the identification of genes, mutations in which appear sufficient to cause clinical phenotypes in humans. This is especially true for disorders of ciliary dysfunction in which an excess of 50 causal loci are now known; this discovery was driven in part b...

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Detalhes bibliográficos
Main Authors: Davis, Erica E., Katsanis, Nicholas
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3509787/
https://ncbi.nlm.nih.gov/pubmed/22632799
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.gde.2012.04.006
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