KEGG   VARIANT: 2495v2
Entry
2495v2                      Variant                                
Name
FTH1 gain-of-function mutation
Gene
FTH1  ferritin heavy chain 1 [KO:K00522]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 134770
Network
nt06525  Ferroptosis
Disease
H00833  Neurodegeneration with brain iron accumulation
Reference
PMID:37660254
  Authors
Shieh JT, Tintos-Hernandez JA, Murali CN, Penon-Portmann M, Flores-Mendez M, Santana A, Bulos JA, Du K, Dupuis L, Damseh N, Mendoza-Londono R, Berera C, Lee JC, Phillips JJ, Alves CAPF, Dmochowski IJ, Ortiz-Gonzalez XR
  Title
Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene FTH1 Cause a Neuroferritinopathy.
  Journal
HGG Adv 4:100236 (2023)
DOI:10.1016/j.xhgg.2023.100236
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