Varaico: Literature-Extracted Genetic Variants

Gene:TF
Variant:p.C11S
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TF

NM_001063.4:p.C11S

Associated Papers

Microelectronic DNA chip for hereditary hyperferritinemia cataract syndrome, a model for large-scale analysis of disorders of iron metabolism.

Ferrari F et al.

Human Mutation, 2006

Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations.

Hetet G et al.

Blood, 2003

Clinical, biochemical and molecular findings in a series of families with hereditary hyperferritinaemia-cataract syndrome.

Girelli D et al.

British Journal of Haematology, 2001

Hereditary hyperferritinemia cataract syndrome: ocular, genetic, and biochemical findings.

Ismail AR et al.

European Journal of Ophthalmology, 0

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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."