Varaico: Literature-Extracted Genetic Variants

Gene:FTL
Variant:p.H148insFs
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FTL

NM_000146.4:p.H148insFs

Associated Papers

Pathogenic mechanism and modeling of neuroferritinopathy.

Cozzi A et al.

Cellular and Molecular Life Sciences : Cmls, 2021

L-Ferritin: One Gene, Five Diseases; from Hereditary Hyperferritinemia to Hypoferritinemia-Report of New Cases.

Cadenas B et al.

Pharmaceuticals (basel, Switzerland), 2019

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

Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms.

Levi S et al.

Frontiers in Pharmacology, 2014

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

Schneider SA et al.

Current Neuropharmacology, 2013

Abnormal iron homeostasis and neurodegeneration.

Muhoberac BB et al.

Frontiers in Aging Neuroscience, 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."