Varaico: Literature-Extracted Genetic Variants

Gene:FTH1
Variant:p.K54E
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FTH1

NM_002032.3:p.K54E

Associated Papers

Hereditary Hyperferritinemia-Cataract Syndrome in a Family With HFE-H63D Mutation.

Eris T et al.

Cureus, 2023

Hereditary hyperferritinaemia cataract syndrome.

Bowes O et al.

Lancet (london, England), 2014

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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."