Open AccessDisruption of cellular iron homeostasis by IREB2 missense variants causes severe neurodevelopmental delay, dystonia and seizures
Author(s) -
Nunziata Maio,
Russell P. Saneto,
Richard Steet,
Márcio A Sotero de Menezes,
Cindy Skinner,
Tracey A. Rouault
Publication year - 2022
Publication title -
brain communications
Language(s) - English
Resource type - Journals
ISSN - 2632-1297
DOI - 10.1093/braincomms/fcac102
Subject(s) - missense mutation , neurodegeneration , loss function , biology , homeostasis , dystonia , medicine , neuroscience , bioinformatics , disease , endocrinology , genetics , phenotype , gene
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