Varaico: Literature-Extracted Genetic Variants

Gene:FTL
Variant:p.D147_H148insFs
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FTL

NM_000146.4:p.D147_H148insFs

Associated Papers

Pathogenic mechanism and modeling of neuroferritinopathy.

Cozzi A et al.

Cellular and Molecular Life Sciences : Cmls, 2021

Iron, Ferritin, Hereditary Ferritinopathy, and Neurodegeneration.

Muhoberac BB et al.

Frontiers in Neuroscience, 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

Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA).

Schneider SA et al.

Current Neuropharmacology, 2013

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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."