Varaico: Literature-Extracted Genetic Variants

Gene:GPR50
Variant:p.D172N
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GPR50

NM_004224.3:p.D172N

Associated Papers

Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants.

Benito-Vicente A et al.

International Journal of Molecular Sciences, 2018

Functional implications and ubiquitin-dependent degradation of the peptide transporter Ptr2 in Saccharomyces cerevisiae.

Kawai K et al.

Eukaryotic Cell, 2014

Control of rectification and permeation by residues in two distinct domains in an inward rectifier K+ channel.

Yang J et al.

Neuron, 1995

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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."