Varaico: Literature-Extracted Genetic Variants

Gene:TF
Variant:p.C11F
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TF

NM_001063.4:p.C11F

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

[Hereditary hyperferritinemia cataract syndrome].

Holzgreve H

Deutsche Medizinische Wochenschrift (1946), 2011

Hereditary hyperferritinemia-cataract syndrome in two large multigenerational American families.

Shekunov J et al.

Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2011

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

Girelli D et al.

British Journal of Haematology, 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."