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Paper Details

Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification.
Am J Hum Genet
15
2020
Author NameAffiliation
Francesca Clementina Radio
Stefanie EggersMurdoch Children's Research Institute, Australia Victorian Clinical Genetics Services
Ingrid E SchefferMurdoch Children's Research Institute, University of Melbourne, Royal Children's Hospital
Marco Tartaglia
John ChristodoulouMurdoch Children's Research Institute, University of Melbourne, Australia Victorian Clinical Genetics Services
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Release 1.2