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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRNP

Variant:p.G53S

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PRNP

NM_000311.5:p.G53S

hg38:chr20:4699377 G>A

Associated Papers

Prion protein promotes copper toxicity in Wilson disease.

Petruzzelli R et al.

Nature Communications, 2025

39922819 (PubMed )

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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."