Varaico: Literature-Extracted Genetic Variants

Gene:TFRC
Variant:p.S10C
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TFRC

NM_001128148.3:p.S10C

Associated Papers

Hereditary hyperferritinemia cataract syndrome in four patients with mutations in the IRE of the FTL gene.

Muñoz-Muñoz J et al.

Clinical Genetics, 2013

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."