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Interpreting the pathogenicity of Joubert syndrome missense variants in Caenorhabditis elegans
Ciliopathies are inherited disorders caused by defects in motile and non-motile (primary) cilia. Ciliopathy syndromes and associated gene variants are often highly pleiotropic and represent exemplars for interrogating genotype-phenotype correlations. Towards understanding disease mechanisms in the c...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The Company of Biologists Ltd
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7859701/ https://www.ncbi.nlm.nih.gov/pubmed/33234550 http://dx.doi.org/10.1242/dmm.046631 |