Varaico: Literature-Extracted Genetic Variants

Gene:FTH1
Variant:p.Y13Y
Back to variants list

FTH1

NM_002032.3:p.Y13Y

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

Clinical features and molecular analysis of seven British kindreds with hereditary hyperferritinaemia cataract syndrome.

Lachlan KL et al.

European Journal of Human Genetics : Ejhg, 2004

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."