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
Activated leukocyte cell adhesion molecule/cluster of differentiation 166 rs10933819 (G>A) variant is associated with familial intracranial aneurysms.
Aitkulova A et al.
Biomedical Reports, 2022
35815187 (PubMed )
Supplement: Supplementary_Data.xlsx › 713_shortlisted_variants
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
Focused Analysis of Exome Sequencing Data for Rare Germline Mutations in Familial and Sporadic Lung Cancer.
Liu Y et al.
Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2016
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