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Evidence that the effect of C-terminal truncating variants in PRNP may be position-dependent

cureffi.org · published 4 July 2025

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https://gnomad.broadinstitute.org/

gnomad.broadinstitute.org

https://pubmed.ncbi.nlm.nih.gov/26791950/

pubmed.ncbi.nlm.nih.gov

https://pubmed.ncbi.nlm.nih.gov/32461653/

pubmed.ncbi.nlm.nih.gov

https://pubmed.ncbi.nlm.nih.gov/25623792/

pubmed.ncbi.nlm.nih.gov

https://pubmed.ncbi.nlm.nih.gov/31757870/

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https://app.genebass.org/gene/undefined/phenotype/categorical-FH_Alzheimer_disease_dementia_custom-both_sexes--custom

app.genebass.org

https://app.genebass.org/gene/ENSG00000171867/phenotype/categorical-FH_Alzheimer_disease_dementia_custom-both_sexes--custom?burdenSet=pLoF&phewasOpts=1&resultLayout=small

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https://github.com/ericminikel/cureffi/blob/gh-pages/media/2025/07/prnp_gnomad_ptvs_revisited.R

github.com