Varaico: Literature-Extracted Genetic Variants

Gene:TFRC
Variant:p.G14A
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TFRC

NM_001128148.3:p.G14A

Associated Papers

Ferritin L-subunit gene mutation and hereditary hyperferritinaemia cataract syndrome (HHCS): a case report and literature review.

Yang Y et al.

Hematology (amsterdam, Netherlands), 2021

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

Girelli D et al.

British Journal of Haematology, 2001

Double-gradient denaturing gradient gel electrophoresis assay for identification of L-ferritin iron-responsive element mutations responsible for hereditary hyperferritinemia-cataract syndrome: identification of the new mutation C14G.

Cremonesi L et al.

Clinical Chemistry, 2001

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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."