Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.I1336delFs
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ATP7B

NM_000053.4:p.I1336delFs

Associated Papers

Phenotypic and genetic characterization of children with Wilson Disease from Northeast China.

Zhang T et al.

Bmc Pediatrics, 2024

Management of Wilson Disease Diagnosed in Infancy: An Appraisal of Available Experience to Generate Discussion.

Valentino PL et al.

Journal of Pediatric Gastroenterology and Nutrition, 2020

Multiplex Ligation-dependent Probe Amplification Analysis Subsequent to Direct DNA Full Sequencing for Identifying ATP7B Mutations and Phenotype Correlations in Children with Wilson Disease.

Shim JO et al.

Journal of Korean Medical Science, 2018

Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson's disease: a case report.

Liu G et al.

Bmc Medical Genetics, 2018

29649982 (PubMed )
Supplement: 12881_2018_567_MOESM2_ESM.docx

Wilson disease with hepatic presentation in an eight-month-old boy.

Abuduxikuer K et al.

World Journal of Gastroenterology, 2015

Genetically confirmed Wilson disease in a 9-month old boy with elevations of aminotransferases.

Kim JW et al.

World Journal of Hepatology, 2013

Mutational analysis of ATP7B in north Chinese patients with Wilson disease.

Li K et al.

Journal of Human Genetics, 2013

Diagnosis of Wilson disease in young children: molecular genetic testing and a paradigm shift from the laboratory diagnosis.

Seo JK

Pediatric Gastroenterology, Hepatology & Nutrition, 2012

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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."