Varaico: Literature-Extracted Genetic Variants

Gene:PRNP
Variant:p.V189I
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PRNP

NM_000311.5:p.V189I

Associated Papers

Genetic prion diseases presenting as frontotemporal dementia: clinical features and diagnostic challenge.

Chen Z et al.

Alzheimer's Research & Therapy, 2022

Phenotypic diversity of genetic Creutzfeldt-Jakob disease: a histo-molecular-based classification.

Baiardi S et al.

Acta Neuropathologica, 2021

A seven-residue deletion in PrP leads to generation of a spontaneous prion formed from C-terminal C1 fragment of PrP.

Munoz-Montesino C et al.

The Journal of Biological Chemistry, 2020

Genetic Factors in Mammalian Prion Diseases.

Mead S et al.

Annual Review of Genetics, 2019

Mutations in Prion Protein Gene: Pathogenic Mechanisms in C-Terminal vs. N-Terminal Domain, a Review.

Bernardi L et al.

International Journal of Molecular Sciences, 2019

Understanding Prion Strains: Evidence from Studies of the Disease Forms Affecting Humans.

Rossi M et al.

Viruses, 2019

Clinical and neuropathological phenotype associated with the novel V189I mutation in the prion protein gene.

Di Fede G et al.

Acta Neuropathologica Communications, 2019

Searching for factors that distinguish disease-prone and disease-resistant prions via sequence analysis.

Kedarisetti KD et al.

Bioinformatics and Biology Insights, 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."