Varaico: Literature-Extracted Genetic Variants

Gene:IREB2
Variant:p.P443_S444del1
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IREB2

NM_004136.4:p.P443_S444del1

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

IREB2-associated neurodegeneration.

Cooper MS et al.

Brain : a Journal of Neurology, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."