Identifying the genetic basis of variably protease-sensitive prionopathy (VPSPr)
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https://www.ncbi.nlm.nih.gov/sra/SRP582524
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Design: Sequencing of cases onlyMolecular technologies: Exome sequencing and custom targeted sequencing of PRNPAims: Identify modestly penetrant, high odds ratio variants conferring risk of variably protease-sensitive prionopathy (VPSPr)Population: n=67 autopsy-confirmed VPSPr cases, United States, 1997-2021Principal findings: Association to PRNP M129V replicated, no other causal variants identifiedData available: Raw sequencing data and metadata
创建时间：
2025-07-12
