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BBS mutations modify phenotypic expression of CEP290-related ciliopathies
Ciliopathies are a group of heterogeneous disorders associated with ciliary dysfunction. Diseases in this group display considerable phenotypic variation within individual syndromes and overlapping phenotypes among clinically distinct disorders. Particularly, mutations in CEP290 cause phenotypically...
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| Main Authors: | , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3857943/ https://ncbi.nlm.nih.gov/pubmed/23943788 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddt394 |
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