Varaico: Literature-Extracted Genetic Variants

Gene:PRDX2
Variant:p.Q160*
Back to variants list

PRDX2

NM_005809.6:p.Q160*

Associated Papers

Identification of Prion Disease-Related Somatic Mutations in the Prion Protein Gene (PRNP) in Cancer Patients.

Kim YC et al.

Cells, 2020

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

Impaired transport of intrinsically disordered proteins through the Sec61 and SecY translocon; implications for prion diseases.

Jung S et al.

Prion, 2018

Prion disease.

Takada LT et al.

Handbook of Clinical Neurology, 2018

Dominantly inherited prion protein cerebral amyloidoses - a modern view of Gerstmann-Sträussler-Scheinker.

Ghetti B 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

Prion protein amyloidosis with divergent phenotype associated with two novel nonsense mutations in PRNP.

Jansen C et al.

Acta Neuropathologica, 2010

High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes.

Finckh U et al.

American Journal of Human Genetics, 2000

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."