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Ciliary Genes <i>arl13b</i> , <i>ahi1</i> and <i>cc2d2a</i> Differentially Modify Expression of Visual Acuity Phenotypes but do not Enhance Retinal Degeneration due to Mutation of <i>cep</i> 290 in Zebrafish

2019-03-06

Abstract excerpt

<h4>ABSTRACT</h4> Mutations in the gene Centrosomal Protein 290 kDa ( CEP290 ) result in multiple ciliopathies ranging from the neonatal lethal disorder Meckel-Gruber Syndrome to multi-systemic disorders such as Joubert Syndrome and Bardet-Biedl Syndrome to nonsyndromic diseases like Leber Congenital Amaurosis (LCA) and retinitis pigmentosa. Results from model organisms and human genetics studies, have suggest t...

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Literature Corpus work
81ba7d68-f004-5e45-b60f-d9f44350f5e2
DOI
10.1101/569822
Open publication

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Ciliary Genes <i>arl13b</i> , <i>ahi1</i> and <i>cc2d2a</i> Differentially Modify Expression of Visual Acuity Phenotypes but do not Enhance Retinal Degeneration due to Mutation of <i>cep</i> 290 in ZebrafishDOI 10.1101/569822
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