Associated Papers
Novel biallelic variants in IREB2 cause an early-onset neurodegenerative disorder in a Chinese pedigree.
Guo Z et al.
Orphanet Journal of Rare Diseases, 2024
Iron Homeostasis in the CNS: An Overview of the Pathological Consequences of Iron Metabolism Disruption.
Porras CA et al.
International Journal of Molecular Sciences, 2022
Disruption of cellular iron homeostasis by IREB2 missense variants causes severe neurodevelopmental delay, dystonia and seizures.
Maio N et al.
Brain Communications, 2022
Absence of iron-responsive element-binding protein 2 causes a novel neurodegenerative syndrome.
Costain G et al.
Brain : a Journal of Neurology, 2019
Recurrent inactivation of STAG2 in bladder cancer is not associated with aneuploidy.
Balbás-Martínez C et al.
Nature Genetics, 2013
24121791 (PubMed )
Supplement: NIHMS525200-supplement-2.xls › Relevant_mut_discovery_screen
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