Article

Search for a genetic cause of variably protease-sensitive prionopathy

2024-12-14

Abstract excerpt

Variably protease-sensitive prionopathy (VPSPr) is a rare, atypical subtype of prion disease currently classified as sporadic. We performed exome sequencing and targeted sequencing of PRNP non-coding regions on genomic DNA from autopsy-confirmed VPSPr patients (N=67) in order to search for a possible genetic cause. Our search identified no potentially causal variants for VPSPr. The common polymorphism PRNP M129V w...

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Literature Corpus work: 8f4428a2-e134-5d2c-a35a-b745c0193c9a
DOI: 10.1101/2024.12.12.24318867

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