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...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
The Company of Biologists
2021-01-01
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| Series: | Disease Models & Mechanisms |
| Subjects: | |
| Online Access: | http://dmm.biologists.org/content/14/1/dmm046631 |