Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.L1120*
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ATP7B

NM_000053.4:p.L1120*

Associated Papers

Nano-Mediated Molecular Targeting in Diagnosis and Mitigation of Wilson Disease.

Chaturvedi A et al.

Molecular Neurobiology, 2024

Wilson Disease Prevalence: Discrepancy Between Clinical Records, Registries and Mutation Carrier Frequency.

Lorente-Arencibia P et al.

Journal of Pediatric Gastroenterology and Nutrition, 2022

Genetics of Wilson disease and Wilson-like phenotype in a clinical series from eastern Spain.

Sánchez-Monteagudo A et al.

Clinical Genetics, 2020

Prevalence of ATP7B Gene Mutations in Iranian Patients With Wilson Disease.

Zali N et al.

Hepatitis Monthly, 2011

Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease.

Gojová L et al.

Clinical Genetics, 2008

Mutation analysis of Wilson disease in the Spanish population -- identification of a prevalent substitution and eight novel mutations in the ATP7B gene.

Margarit E et al.

Clinical Genetics, 2005

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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."