Varaico: Literature-Extracted Genetic Variants

Gene:HFE
Variant:p.P160delFs
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HFE

NM_000410.4:p.P160delFs

Associated Papers

The global prevalence of HFE and non-HFE hemochromatosis estimated from analysis of next-generation sequencing data.

Wallace DF et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016

The Q283P amino-acid change in HFE leads to structural and functional consequences similar to those described for the mutated 282Y HFE protein.

Ka C et al.

Human Genetics, 2005

[Molecular basis in hereditary haemochromatosis].

Cadet E et al.

La Revue De Medecine Interne, 2005

Recent advances in understanding haemochromatosis: a transition state.

Robson KJ et al.

Journal of Medical Genetics, 2004

Complete scanning of the hereditary hemochromatosis gene (HFE) by use of denaturing HPLC.

Le Gac G 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."