Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.T1288R
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ATP7B

NM_000053.4:p.T1288R

Associated Papers

Genetics and epigenetic factors of Wilson disease.

Medici V et al.

Annals of Translational Medicine, 2019

Hemolytic anemia as first presentation of Wilson's disease with uncommon ATP7B mutation.

Ye XN et al.

International Journal of Clinical and Experimental Medicine, 2015

Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort.

Lee BH et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2011

High prevalence of fulminant hepatic failure among patients with mutant alleles for truncation of ATP7B in Wilson's disease.

Okada T et al.

Scandinavian Journal of Gastroenterology, 2010

Homozygous mutations in the conserved ATP hinge region of the Wilson disease gene: association with liver disease.

Barada K et al.

Journal of Clinical Gastroenterology, 2010

Analysis of the T1288R mutation of the Wilson disease ATP7B gene in four generations of a family: possible genotype-phenotype correlation with hepatic onset.

Leggio L et al.

Digestive Diseases and Sciences, 2007

Wilson's disease.

Leggio L et al.

Lancet (london, England), 2007

Genotype-phenotype correlation of the Wilson disease ATP7B gene.

Leggio L et al.

American Journal of Medical Genetics. Part A, 2006

A new mutation of Wilson's disease P-type ATPase gene in a patient with cirrhosis and coombs-positive hemolytic anemia.

Leggio L et al.

Digestive Diseases and Sciences, 2006

Penicillamine-related lichenoid dermatitis and utility of zinc acetate in a Wilson disease patient with hepatic presentation, anxiety and SPECT abnormalities.

Leggio L et al.

International Journal of Immunopathology and Pharmacology, 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."