Varaico: Literature-Extracted Genetic Variants

Gene:FTH1
Variant:p.S5C
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FTH1

NM_002032.3:p.S5C

Associated Papers

Hereditary hyperferritinaemia-cataract syndrome: a challenging diagnosis for the hepatogastroenterologist.

Ferrante M et al.

European Journal of Gastroenterology & Hepatology, 2005

Identification of two novel mutations in the 5'-untranslated region of H-ferritin using denaturing high performance liquid chromatography scanning.

Cremonesi L et al.

Haematologica, 2003

Recent advance in molecular iron metabolism: translational disorders of ferritin.

Kato J et al.

International Journal of Hematology, 2002

Double-gradient denaturing gradient gel electrophoresis assay for identification of L-ferritin iron-responsive element mutations responsible for hereditary hyperferritinemia-cataract syndrome: identification of the new mutation C14G.

Cremonesi L et al.

Clinical Chemistry, 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."