Varaico: Literature-Extracted Genetic Variants

Gene:PRNP
Variant:p.D167G
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PRNP

NM_000311.5:p.D167G

Associated Papers

Genetic Factors in Mammalian Prion Diseases.

Mead S et al.

Annual Review of Genetics, 2019

Genetic PrP Prion Diseases.

Kim MO et al.

Cold Spring Harbor Perspectives in Biology, 2018

Characterization of mutations in PRNP (prion) gene and their possible roles in neurodegenerative diseases.

Bagyinszky E et al.

Neuropsychiatric Disease and Treatment, 2018

Experimental Models of Inherited PrP Prion Diseases.

Watts JC et al.

Cold Spring Harbor Perspectives in Medicine, 2017

A novel prion protein variant in a patient with semantic dementia.

Kenny J et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 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

Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.

Keogh MJ et al.

Genome Research, 2017

28003435 (PubMed )
Supplement: supp_gr.210609.116_Supplemental_Clinical_data.xlsx › Uncertain_Significance

Transgenic mice recapitulate the phenotypic heterogeneity of genetic prion diseases without developing prion infectivity: Role of intracellular PrP retention in neurotoxicity.

Chiesa R et al.

Prion, 2016

The genetics of susceptibility to variant Creutzfeldt-Jakob disease.

Saba R et al.

Public Health Genomics, 2013

PRNP allelic series from 19 years of prion protein gene sequencing at the MRC Prion Unit.

Beck JA et al.

Human Mutation, 2010

PRNP variation in UK sporadic and variant Creutzfeldt Jakob disease highlights genetic risk factors and a novel non-synonymous polymorphism.

Bishop MT et al.

Bmc Medical Genetics, 2009

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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."