Article

Interpreting the pathogenicity of Joubert Syndrome missense variants in <i>Caenorhabditis elegans</i>

2020-05-22

Abstract excerpt

<h4>ABSTRACT</h4> Ciliopathies are inherited disorders caused by cilia defects. Variants in ciliopathy genes are frequently pleiotropic and represent excellent case studies for interrogating genotype-phenotype correlation. We have employed Caenorhabditis elegans and gene editing to characterise two pathogenic biallelic missense variants (P74S, G155S) in B9D2/ mksr-2 associated with Joubert Syndrome (JBTS). B9D2...

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Literature Corpus work: f586cdbc-be17-5f42-ad33-94de8a150722
DOI: 10.1101/2020.05.22.110668

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