Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.A971V
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ATP7B

NM_000053.4:p.A971V

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

Advancing Newborn Screening in Washington State: A Novel Multiplexed LC-MS/MS Proteomic Assay for Wilson Disease and Inborn Errors of Immunity.

Klippel C et al.

International Journal of Neonatal Screening, 2025

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

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

New mutations in the Wilson disease gene, ATP7B: implications for molecular testing.

Davies LP et al.

Genetic Testing, 2008

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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."