Search for a genetic cause of variably protease-sensitive prionopathy.

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 possi...

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Bibliographic Details
Main Authors: Yuan Lian, Keisi Kotobelli, Stacey Hall, Michael E Talkowski, Anne O'Donnell-Luria, Sonia Minikel Vallabh, Brian S Appleby, Eric Vallabh Minikel
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2025-08-01
Series:PLoS Pathogens
Online Access:https://doi.org/10.1371/journal.ppat.1013343
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