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Author

C. Durand

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Open access Aug 2026

Functional Homology of WIPI4 and Atg18 Enables WDR45 Variant Interpretation for BPAN Diagnosis

This study identified the yeast ortholog of WDR45 and established a Saccharomyces cerevisiae-based functional complementation assay to assess the pathogenicity of WDR45 variants, establishing a simple, robust, and scalable yeast model that enables functional interpretation of WDR45 variants and improves molecular diagnosis of BPAN.

Vincent Morin, C. Durand, C. Angelini et al. · 0 citations