Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.V73fs
Back to variants list

ATP7B

NM_000053.4:p.V73fs

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

Wilson's disease in Sardinian population: The experience of a pediatric referral center.

Loudianos G et al.

Journal of Pediatric Gastroenterology and Nutrition, 2024

Genetic analysis of ATP7B in 102 south Indian families with Wilson disease.

Singh N et al.

Plos One, 2019

31059521 (PubMed )
Supplement: pone.0215779.s001.pdf

Genetic variation spectrum in ATP7B gene identified in Latvian patients with Wilson disease.

Zarina A et al.

Molecular Genetics & Genomic Medicine, 2017

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."