Associated Papers
An ADPRS variant disrupts ARH3 stability and subcellular localization in children with neurodegeneration and respiratory failure.
Bannister M et al.
Hgg Advances, 2025
39580621 (PubMed )
Supplement: mmc2.pdf
A novel variant in ADPRS disrupts ARH3 stability and subcellular localization in children with neurodegeneration and respiratory failure.
Bannister M et al.
Biorxiv : the Preprint Server for Biology, 2024
Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.
Danhauser K et al.
American Journal of Human Genetics, 2018
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