Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.H63D
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CAT

NM_001752.4:p.H63D

Associated Papers

The Quiet Burden of Iron: A Rare Case of Hereditary Hemochromatosis in Pakistan.

Batool M et al.

Cureus, 2025

Copper Dyshomeostasis in Neurodegenerative Diseases-Therapeutic Implications.

Gromadzka G et al.

International Journal of Molecular Sciences, 2020

Association Studies of HFE C282Y and H63D Variants with Oral Cancer Risk and Iron Homeostasis Among Whites and Blacks.

Jones NR et al.

Cancers, 2015

Effect of hereditary haemochromatosis genotypes and iron overload on other trace elements.

Beckett JM et al.

European Journal of Nutrition, 2013

Iron metabolism and the role of HFE gene polymorphisms in Wilson disease.

Pfeiffenberger J et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2012

Heteroduplex analysis for the three common HFE variants: methodology, reliability and analysis of over 5000 requests for testing.

Kingston J et al.

Journal of Clinical Pathology, 2007

Roles of iron and HFE mutations on severity and response to therapy during retreatment of advanced chronic hepatitis C.

Bonkovsky HL et al.

Gastroenterology, 2006

HFE gene mutations in susceptibility to childhood leukemia: HuGE review.

Dorak MT et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2005

Increased incidence of the Hfe mutation in amyotrophic lateral sclerosis and related cellular consequences.

Wang XS et al.

Journal of the Neurological Sciences, 2004

HFE gene mutations in coronary atherothrombotic disease.

Calado RT et al.

Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2000

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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."