Varaico: Literature-Extracted Genetic Variants

Gene:PRNP
Variant:p.C179S
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PRNP

NM_000311.5:p.C179S

Associated Papers

Substitution of histidine 95 by tyrosine in the prion protein causes spontaneous neurodegeneration in transgenic mice.

Torres JM et al.

Plos Pathogens, 2025

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

Kedarisetti KD et al.

Bioinformatics and Biology Insights, 2008

The interplay of glycosylation and disulfide formation influences fibrillization in a prion protein fragment.

Bosques CJ et al.

Proceedings of the National Academy of Sciences of the United States of America, 2003

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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."