Varaico: Literature-Extracted Genetic Variants

Gene:GPR50
Variant:p.N300D
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GPR50

NM_004224.3:p.N300D

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

RelA functionally suppresses the growth defect caused by a mutation in the G domain of the essential Der protein.

Hwang J et al.

Journal of Bacteriology, 2008

XylS-Pm promoter interactions through two helix-turn-helix motifs: identifying XylS residues important for DNA binding and activation.

Domínguez-Cuevas P et al.

Journal of Molecular Biology, 2008

Identification of potential mutational hotspots in serratiopeptidase to address its poor pH tolerance issue.

Dhiman A et al.

Journal of Biomolecular Structure & Dynamics, 0

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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."