Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.R1320T
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ATP7B

NM_000053.4:p.R1320T

Associated Papers

Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.

Melo M et al.

International Journal of Molecular Sciences, 2025

Direct Measurement of ATP7B Peptides Is Highly Effective in the Diagnosis of Wilson Disease.

Collins CJ et al.

Gastroenterology, 2021

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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."