Varaico: Literature-Extracted Genetic Variants

Gene:FTH1
Variant:p.H137fs
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FTH1

NM_002032.3:p.H137fs

Associated Papers

FTH1-Related Neuroferritinopathy: A Rare Form of Neurodegeneration with Brain Iron Accumulation Mimicking Pontocerebellar Hypoplasia.

Chowdhury SR et al.

Movement Disorders Clinical Practice, 2026

Distribution of ferritin complex in the adult brain and altered composition in neuroferritinopathy due to a novel variant in the ferritin heavy chain gene FTH1 (c.409_410del; p.H137Lfs*4).

Umathum V et al.

Brain Pathology (zurich, Switzerland), 2024

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