Varaico: Literature-Extracted Genetic Variants

Gene:PRNP
Variant:p.Q212H
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PRNP

NM_000311.5:p.Q212H

Associated Papers

Cerebrospinal Fluid Total Prion Protein in the Spectrum of Prion Diseases.

Villar-Piqué A et al.

Molecular Neurobiology, 2019

Probing early misfolding events in prion protein mutants by NMR spectroscopy.

Giachin G et al.

Molecules (basel, Switzerland), 2013

Report about four novel mutations in the prion protein gene.

Schelzke G et al.

Dementia and Geriatric Cognitive Disorders, 2013

Novel PRNP mutation in a patient with a slow progressive dementia syndrome.

Heinemann U et al.

Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2008

Creutzfeldt-Jakob disease in Germany: a prospective 12-year surveillance.

Heinemann U et al.

Brain : a Journal of Neurology, 2007

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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."