Varaico: Literature-Extracted Genetic Variants

Gene:ALB
Variant:p.H63D
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ALB

NM_000477.7:p.H63D

Associated Papers

Associations between metabolic hyperferritinaemia, fibrosis-promoting alleles and clinical outcomes in steatotic liver disease.

Suresh D et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2024

Simultaneous Occurrence of Wilson's Disease, Autoimmune Hepatitis, and Hereditary Hemochromatosis: A Diagnostic Challenge.

Fatemi R et al.

Middle East Journal of Digestive Diseases, 2024

Fulminant Hepatic Failure With Minimal Alcohol Consumption in a 25-Year-Old Female With Hereditary Hemochromatosis: A Rare Case.

Alvi AT et al.

Cureus, 2023

H63D Homozygous Mutation: An Unusual Cause of Deranged Liver Function Test in an Elderly Patient.

Nasrullah H et al.

Cureus, 2022

Autoimmune Hepatitis in the Setting of Iron Overload Secondary to Heterozygous HFE Gene Mutation.

Chauhan S et al.

Cureus, 2022

Far From the Biliary Tree: A Case of Overlapping Autoimmune Liver Disease in a Patient Presenting With Sicca Symptoms.

Walsh K et al.

Cureus, 2022

Diagnostic value of targeted next-generation sequencing in suspected hemochromatosis patients with a single copy of the HFE p.Cys282Tyr causative allele.

Uguen K et al.

American Journal of Hematology, 2017

Successful Treatment of Iron-Overload Cardiomyopathy in Hereditary Hemochromatosis With Deferoxamine and Deferiprone.

Tauchenová L et al.

The Canadian Journal of Cardiology, 2016

Rare cause of weight loss in a kidney transplant recipient: iron overload.

Yaprak M et al.

Renal Failure, 2014

Liver iron, HFE gene mutations, and hepatocellular carcinoma occurrence in patients with cirrhosis.

Nahon P et al.

Gastroenterology, 2008

HFE gene mutations and oxidative stress influence serum ferritin, associated with vascular damage, in hemodialysis patients.

Valenti L et al.

American Journal of Nephrology, 2007

Case records of the Massachusetts General Hospital. Case 33-2006. A 43-year-old man with diabetes, hypogonadism, cirrhosis, arthralgias, and fatigue.

Chung RT et al.

The New England Journal of Medicine, 2006

Iron overload manifesting as apparent exacerbation of hepatic graft-versus-host disease after allogeneic hematopoietic stem cell transplantation.

Kamble RT et al.

Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation, 2006

Hemochromatosis mutations in the general population: iron overload progression rate.

Andersen RV et al.

Blood, 2004

A previously undescribed nonsense mutation of the HFE gene.

Beutler E et al.

Clinical Genetics, 2002

Large-scale screening for HFE mutations: methodology and cost.

Beutler E et al.

Genetic Testing, 2000

Hfe mutations and iron overload in patients with alcoholic liver disease.

Costa-Matos L et al.

Arquivos De Gastroenterologia, 0

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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."