Varaico: Literature-Extracted Genetic Variants

Gene:HFE
Variant:p.A157delFs
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HFE

NM_000410.4:p.A157delFs

Associated Papers

EASL clinical practice guidelines for HFE hemochromatosis.

Unknown Author

Journal of Hepatology, 2010

Prevalence of H63D, S65C and C282Y hereditary hemochromatosis gene mutations in Slovenian population by an improved high-throughput genotyping assay.

Cukjati M et al.

Bmc Medical Genetics, 2007

A novel homozygous frameshift deletion c.471del of HFE associated with hemochromatosis.

Cukjati M et al.

Clinical Genetics, 2007

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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."