Varaico: Literature-Extracted Genetic Variants

Gene:FTH1
Variant:p.Q8_V9del0
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FTH1

NM_002032.3:p.Q8_V9del0

Associated Papers

Hyperferritinaemia-cataract syndrome: worldwide mutations and phenotype of an increasingly diagnosed genetic disorder.

Millonig G et al.

Human Genomics, 2010

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

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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."