VARIANT: 3077v1
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Entry
3077v1 Variant
Name
HFE mutation
Type
Loss of function
Gene
HFE
hereditary hemochromatosis protein isoform 1 precursor [KO:
K26535
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
613609
Network
nt06507
TGFB signaling
Disease
H00211
Hemochromatosis
Reference
PMID:
30420953
Authors
Pantopoulos K
Title
Inherited Disorders of Iron Overload.
Journal
Front Nutr 5:103 (2018)
DOI:
10.3389/fnut.2018.00103
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