Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.N1324S
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ATP7B

NM_000053.4:p.N1324S

Associated Papers

Relative exchangeable copper: A highly specific and sensitive biomarker for Wilson disease diagnosis.

Djebrani-Oussedik N et al.

Jhep Reports : Innovation in Hepatology, 2025

40980162 (PubMed )
Supplement: mmc1.pdf

The Genomic Landscape of Wilson Disease in a Pan India Disease Cohort and Population-Scale Data.

Kumar M et al.

Movement Disorders Clinical Practice, 2025

Clinical and Genetic Profile of Pediatric and Adult Wilson's Disease in India.

Kulkarni AV et al.

Gastro Hep Advances, 2025

ATP7B variant penetrance explains differences between genetic and clinical prevalence estimates for Wilson disease.

Wallace DF et al.

Human Genetics, 2020

Multiplex PCR-based Sequencing of ATP7B Gene in Wilson's Disease - A Preliminary Study.

Aaron R et al.

Journal of Clinical and Experimental Hepatology, 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."