Varaico: Literature-Extracted Genetic Variants

Gene:PRNP
Variant:p.E200D
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PRNP

NM_000311.5:p.E200D

Associated Papers

Genetic causes and modifiers of prion diseases.

Mead S et al.

The Lancet. Neurology, 2026

Genetic Creutzfeldt-Jakob disease linked to the E200K mutation: a large cohort study.

Appleby BS et al.

Acta Neuropathologica, 2026

Identification of Genetic Variants in Progressive Supranuclear Palsy in Southeast Asia.

Ng ASL et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2024

Prion Mutations in Republic of Republic of Korea, China, and Japan.

Kim DY et al.

International Journal of Molecular Sciences, 2022

Creutzfeldt-Jakob disease associated with a T188K homozygous mutation in the prion protein gene: a case report and review of the literature.

Shan Y et al.

Prion, 2022

Homozygous R136S mutation in PRNP gene causes inherited early onset prion disease.

Ximelis T et al.

Alzheimer's Research & Therapy, 2021

Case report of homozygous E200D mutation of PRNP in apparently sporadic Creutzfeldt-Jakob disease.

Hassan A et al.

Bmc Neurology, 2021

Genetic Factors in Mammalian Prion Diseases.

Mead S et al.

Annual Review of Genetics, 2019

Molecular Characterization of the Danish Prion Diseases Cohort With Special Emphasis on Rare and Unique Cases.

Areškevičiūtė A et al.

Journal of Neuropathology and Experimental Neurology, 2019

Description and analysis of 12 years of surveillance for Creutzfeldt-Jakob disease in Denmark, 1997 to 2008.

Gubbels S et al.

Euro Surveillance : Bulletin Europeen Sur Les Maladies Transmissibles = European Communicable Disease Bulletin, 2012

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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."