Varaico: Literature-Extracted Genetic Variants

Gene:GPR50
Variant:p.E22G
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GPR50

NM_004224.3:p.E22G

Associated Papers

Genotype-Phenotype Associations with Restrictive Cardiomyopathy Induced by Pathogenic Genetic Mutations.

Yang Z et al.

Reviews in Cardiovascular Medicine, 2022

Identification of compound heterozygous patients with primary hyperoxaluria type 1: clinical evaluations and in silico investigations.

Kanoun H et al.

Bmc Nephrology, 2017

Modeling the complex pathology of Alzheimer's disease in Drosophila.

Fernandez-Funez P et al.

Experimental Neurology, 2015

Familial Alzheimer's disease Osaka mutant (ΔE22) β-barrels suggest an explanation for the different Aβ1-40/42 preferred conformational states observed by experiment.

Jang H et al.

The Journal of Physical Chemistry. B, 2013

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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."