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...
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| Main Authors: | , , , |
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| Format: | Book |
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The Company of Biologists,
2021-01-01T00:00:00Z.
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