Varaico: Literature-Extracted Genetic Variants

Gene:FTL
Variant:p.D12D
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FTL

NM_000146.4:p.D12D

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

Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome.

Luscieti S et al.

Orphanet Journal of Rare Diseases, 2013

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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."