Varaico: Literature-Extracted Genetic Variants

Gene:EVA1C
Variant:p.H63D
Back to variants list

EVA1C

NM_058187.5:p.H63D

Associated Papers

HLA-A3-B14 and the origin of the haemochromatosis C282Y mutation: founder effects and recombination events during 12 generations in a Scandinavian family with major iron overload.

Olsson KS et al.

European Journal of Haematology, 2010

HLA haplotype map of river valley populations with hemochromatosis traced through five centuries in Central Sweden.

Olsson KS et al.

European Journal of Haematology, 2008

Human leukocyte antigen haplotypes and HFE mutations in Spanish hereditary hemochromatosis and sporadic porphyria cutanea tarda.

Gonzalez-Hevilla M et al.

Journal of Gastroenterology and Hepatology, 2005

Classification and genetic features of neonatal haemochromatosis: a study of 27 affected pedigrees and molecular analysis of genes implicated in iron metabolism.

Kelly AL et al.

Journal of Medical Genetics, 2001

Mutation analysis in the HFE gene in patients with hereditary haemochromatosis in Saguenay-Lac-Saint-Jean (Quebec, Canada).

Rivard SR et al.

British Journal of Haematology, 2000

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."