Varaico: Literature-Extracted Genetic Variants

Gene:M6PR
Variant:p.D174A
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M6PR

NM_002355.4:p.D174A

Associated Papers

AP-1γ2 is an adaptor protein 1 variant required for endosome-to-Golgi trafficking of the mannose-6-P receptor (CI-MPR) and ATP7B copper transporter.

Tavares LA et al.

The Journal of Biological Chemistry, 2024

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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."