Varaico: Literature-Extracted Genetic Variants

Gene:PRNP
Variant:p.E196*
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PRNP

NM_000311.5:p.E196*

Associated Papers

Inherited prion disease caused by a novel frameshift mutation of PRNP resulting in protein truncation at codon 157.

Holm-Mercer L et al.

Journal of Alzheimer's Disease : Jad, 2025

Estimation of the number of inherited prion disease mutation carriers in the UK.

Corbie R et al.

European Journal of Human Genetics : Ejhg, 2022

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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."