Varaico: Literature-Extracted Genetic Variants

Gene:HJV
Variant:p.K219_L220Splc
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HJV

NM_213653.4:p.K219_L220Splc

Associated Papers

The molecular genetics of haemochromatosis.

Le Gac G et al.

European Journal of Human Genetics : Ejhg, 2005

Inherited iron loading: genetic testing in diagnosis and management.

Worwood M

Blood Reviews, 2005

Transcriptional regulation of the human HFE gene indicates high liver expression and erythropoiesis coregulation.

Mura C et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2004

Pathogenesis of hereditary hemochromatosis.

Fleming RE et al.

Clinics in Liver Disease, 2004

Pathogenesis of hereditary hemochromatosis: genetics and beyond.

Britton RS et al.

Seminars in Gastrointestinal Disease, 2002

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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."