Update Literature#501
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PMID 42359808 supports the understanding that the epileptic phenotype is associated with a large repeat size and earlier age of onset. It also shows that there is a significant correlation between repeat size and age of onset for those presenting first with epilepsy, but not for those presenting first with gait instability.
I omitted the dementia finding from 10219787 as they were found to all be related, and the other studies showed no significant association with dementia
Updated details and mechanism fields in STRchive-loci.json.
These are well supported and can go beyond "additional theorized mechanisms"
…t mechanistically central)
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I just created some merge conflicts by merging another PR into main. I'll fix these before merging. I know you requested review, but I saw a few more edits after. Let me know when you're done editing (for now). |
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Please edit this description as you work on this PR
Description
This PR introduces changes from automated literature retrieval followed by manual curation.
Fixes: # Link to any relevant issues and/or discussions
Major Changes
-Gave a mechanism to CJD_PRNP
Minor Changes
Checklist
STRchive-loci.jsonas commits to this branch/PRCITATION.cff, format X.Y.Z. If any major changes, increment Y. If only minor changes, increment Z. If the breaking change (rare), increment X.