Varaico: Literature-Extracted Genetic Variants

Gene:TFRC
Variant:p.N11N
Back to variants list

TFRC

NM_001128148.3:p.N11N

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

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

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."