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Article

Polymorphism at codon 129 of PRNP affects the phenotypic expression of Creutzfeldt-Jakob disease linked to E200K mutation.

Annals of neurology - 1 Aug 2000

Puoti G, Rossi G, Giaccone G, Awan T, Lievens P M, Defanti C A, Tagliavini F, Bugiani O

Abstract excerpt

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10939584

Genes

PRNP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Polymorphism at codon 129 of PRNP affects the phenotypic expression of Creutzfeldt-Jakob disease linked to E200K mutation.PMID 10939584Read ↗

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Creutzfeldt-Jakob disease with the V203I mutation and M129V polymorphism of the prion protein gene (PRNP) and a 17 kDa prion protein fragment.Semantic proximity Read ↗

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Creutzfeldt-Jakob disease profile in patients homozygous for the PRNP E200K mutation.Semantic proximity Read ↗

Genetic risk factors associated with Creutzfeld-Jakob disease in Slovenians and a rapid typing for PRNP codon 129 single nucleotide polymorphism.Semantic proximity Read ↗

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