Molecular BiologybioRxivPreprint
A novel variant in ADPRS disrupts ARH3 stability and subcellular localization in childrenwith neurodegeneration and respiratory failure
Maxwell Henry Bannister, Sarah Bray, Anjali Aggarwal…·Hai Dang Nguyen
This study identifies a novel ADPRS variant causing ARH3 dysfunction in children with neurodegeneration and respiratory failure, linking it to protein instability and mislocalization.
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