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Expanded Catalog of Gold Standard Ciliary Gene List: Integration of Novel Ciliary Genes into the Ciliome

2025-08-24

Abstract excerpt

Ciliopathies are rare genetic disorders caused by mutations in genes that encode proteins critical for cilium assembly and function, affecting various subcompartments, including the axoneme, ciliary membrane, transition zone, and basal body. These mutations lead to diverse developmental and degenerative conditions across multiple organ systems. The 2021 ciliary Gold Standard gene list (688 genes) provides a founda...

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Literature Corpus work
dc86a8ae-43e1-5c07-a431-9baec55c3a12
DOI
10.1101/2025.08.22.671678
Open publication

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Expanded Catalog of Gold Standard Ciliary Gene List: Integration of Novel Ciliary Genes into the CiliomeDOI 10.1101/2025.08.22.671678
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