Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.D1215Y
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ATP7B

NM_000053.4:p.D1215Y

Associated Papers

WilsonGenAI a deep learning approach to classify pathogenic variants in Wilson Disease.

Vatsyayan A et al.

Plos One, 2024

38758754 (PubMed )
Supplement: pone.0303787.s016.xlsx › S4table

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

Current state of Wilson disease patients in central Japan.

Tatsumi Y et al.

Internal Medicine (tokyo, Japan), 2010

Genetic background of Japanese patients with adult-onset storage diseases in the liver.

Hayashi H et al.

Hepatology Research : the Official Journal of the Japan Society of Hepatology, 2007

Compound overload of copper and iron in patients with Wilson's disease.

Hayashi H et al.

Medical Molecular Morphology, 2006

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