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Unravelling the proxisome of photoreceptor-specific nuclear receptor NR2E3 reveals a potential molecular link between transcriptional regulation and splicing in human retina
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A mutant zebrafish model in the search for new therapies for childhood chronic kidney disease
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Structural variants disrupt a critical regulatory region downstream of FOXG1
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Variant of uncertain significance testing in zebrafish : a proof of concept using a COL1A2 variant as example
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Understanding human linkeropathies : generation of knock-in models to study of the consequences of defective proteoglycan biosynthesis
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Assessing the effect of aberrant FOXG1 expression in neural organoids