Varaico: Literature-Extracted Genetic Variants

Gene:HFE
Variant:p.K166N
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HFE

NM_000410.4:p.K166N

Associated Papers

Case report: Early use of whole exome sequencing unveils HNRNPU-related neurodevelopmental disorder and answers additional clinical questions through reanalysis.

Dreikorn EN et al.

Frontiers in Genetics, 2024

Rare HFE variants are the most frequent cause of hemochromatosis in non-c282y homozygous patients with hemochromatosis.

Hamdi-Rozé H et al.

American Journal of Hematology, 2016

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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."