Varaico: Literature-Extracted Genetic Variants

Gene:PRNP
Variant:p.K194E
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PRNP

NM_000311.5:p.K194E

Associated Papers

Genetic prion disease-related mutation E196K displays a novel amyloid fibril structure revealed by cryo-EM.

Wang LQ et al.

Science Advances, 2021

Genetic Factors in Mammalian Prion Diseases.

Mead S et al.

Annual Review of Genetics, 2019

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

Villar-Piqué A et al.

Molecular Neurobiology, 2019

Genetic PrP Prion Diseases.

Kim MO et al.

Cold Spring Harbor Perspectives in Biology, 2018

Prion disease.

Takada LT et al.

Handbook of Clinical Neurology, 2018

Genetic Creutzfeldt-Jakob disease.

Ladogana A et al.

Handbook of Clinical Neurology, 2018

Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature.

Takada LT et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2017

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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."