Varaico: Literature-Extracted Genetic Variants

Gene:FTL
Variant:p.G47C
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FTL

NM_000146.4:p.G47C

Associated Papers

A novel double nucleotide variant in the ferritin-L iron-responsive element in a Finnish patient with hereditary hyperferritinaemia-cataract syndrome.

Mattila RM et al.

Acta Ophthalmologica, 2018

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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."