Varaico: Literature-Extracted Genetic Variants

Gene:PRNP
Variant:p.D202G
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PRNP

NM_000311.5:p.D202G

Associated Papers

Genetic and pathological features encipher the phenotypic heterogeneity of Gerstmann-Sträussler-Scheinker disease.

Chen Z et al.

Neurobiology of Disease, 2024

Genetic Factors in Mammalian Prion Diseases.

Mead S et al.

Annual Review of Genetics, 2019

Experimental Models of Inherited PrP Prion Diseases.

Watts JC et al.

Cold Spring Harbor Perspectives in Medicine, 2017

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

Mutational analysis of PRNP in Alzheimer's disease and frontotemporal dementia in China.

Zhang W et al.

Scientific Reports, 2016

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

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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."