Varaico: Literature-Extracted Genetic Variants

Gene:FTL
Variant:p.G157_L162insFs
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FTL

NM_000146.4:p.G157_L162insFs

Associated Papers

Neuroferritinopathy Human-Induced Pluripotent Stem Cell-Derived Astrocytes Reveal an Active Role of Free Intracellular Iron in Astrocyte Reactivity.

Moro AS et al.

International Journal of Molecular Sciences, 2025

Pathogenic mechanism and modeling of neuroferritinopathy.

Cozzi A et al.

Cellular and Molecular Life Sciences : Cmls, 2021

Stem Cell Modeling of Neuroferritinopathy Reveals Iron as a Determinant of Senescence and Ferroptosis during Neuronal Aging.

Cozzi A et al.

Stem Cell Reports, 2019

Neuroferritinopathy: From ferritin structure modification to pathogenetic mechanism.

Levi S et al.

Neurobiology of Disease, 2015

A novel FTL mutation responsible for neuroferritinopathy with asymmetric clinical features and brain anomalies.

Moutton S et al.

Parkinsonism & Related Disorders, 2014

A novel ferritin light chain mutation in neuroferritinopathy with an atypical presentation.

Nishida K et al.

Journal of the Neurological Sciences, 2014

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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."