Varaico: Literature-Extracted Genetic Variants

Gene:HFE
Variant:p.G93delFs
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HFE

NM_000410.4:p.G93delFs

Associated Papers

Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.

Bates BA et al.

Hgg Advances, 2025

39799398 (PubMed )
Supplement: mmc2.xlsx › variantCounts

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

Iron overload in HFE C282Y heterozygotes at first genetic testing: a strategy for identifying rare HFE variants.

Aguilar-Martinez P et al.

Haematologica, 2011

A previously undescribed frameshift deletion mutation of HFE (c.del277; G93fs) associated with hemochromatosis and iron overload in a C282Y heterozygote.

Barton JC et al.

Clinical Genetics, 2004

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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."