Varaico: Literature-Extracted Genetic Variants

Gene:FTL
Variant:p.A15T
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FTL

NM_000146.4:p.A15T

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

L-Ferritin: One Gene, Five Diseases; from Hereditary Hyperferritinemia to Hypoferritinemia-Report of New Cases.

Cadenas B et al.

Pharmaceuticals (basel, Switzerland), 2019

30678075 (PubMed )
Supplement: pharmaceuticals-12-00017-s001.pdf

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."