Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.I1336T
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ATP7B

NM_000053.4:p.I1336T

Associated Papers

Late-onset Wilson Disease in a Patient Followed-up for Nonalcoholic Fatty Liver Disease.

Asano T et al.

Internal Medicine (tokyo, Japan), 2024

Phenotypes and Chronic Organ Damage May Be Different among Siblings with Wilson's Disease.

Yahata S et al.

Journal of Clinical and Translational Hepatology, 2017

Acute Hepatic Phenotype of Wilson Disease: Clinical Features of Acute Episodes and Chronic Lesions Remaining in Survivors.

Hayashi H et al.

Journal of Clinical and Translational Hepatology, 2015

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1

Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease.

Okada T et al.

Human Mutation, 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."