Varaico: Literature-Extracted Genetic Variants

Gene:PRNP
Variant:p.R136S
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PRNP

NM_000311.5:p.R136S

Associated Papers

Genetic causes and modifiers of prion diseases.

Mead S et al.

The Lancet. Neurology, 2026

Spontaneous prion disease in homozygous and heterozygous transgenic mouse models of T188K genetic Creutzfeldt-Jakob disease.

Wu YZ et al.

Neurobiology of Aging, 2023

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

Genetic Factors in Mammalian Prion Diseases.

Mead S et al.

Annual Review of Genetics, 2019

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

Ghetti B et al.

Handbook of Clinical Neurology, 2018

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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."