Varaico: Literature-Extracted Genetic Variants

Gene:MBD6
Variant:p.R379*
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MBD6

NM_052897.4:p.R379*

Associated Papers

Functional Screen of Wilson Disease ATP7B Variants Reveals Residual Transport Activities.

Calvo JS et al.

Human Mutation, 2025

40661833 (PubMed )
Supplement: 7485658.f1.pdf
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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."