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Article

Interpreting the pathogenicity of Joubert syndrome missense variants in Caenorhabditis elegans.

Disease models & mechanisms - 1 Jan 2021

Lange Karen I, Tsiropoulou Sofia, Kucharska Katarzyna, Blacque Oliver E

Abstract excerpt

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 context of ciliopathy mutations, we have used a leading model organism for cilia and ciliopathy research,...

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Identifiers

PMID: 33234550
DOI: 10.1242/dmm.046631
PMCID: PMC7859701

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Interpreting the pathogenicity of Joubert syndrome missense variants in Caenorhabditis elegans.PMID 33234550Read ↗

Interpreting the pathogenicity of Joubert Syndrome missense variants in <i>Caenorhabditis elegans</i>Semantic proximity Read ↗

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