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Update Literature#501

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github-actions[bot] wants to merge 16 commits into
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Update Literature#501
github-actions[bot] wants to merge 16 commits into
mainfrom
update-data

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@github-actions github-actions Bot commented Jul 2, 2026

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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

Minor Changes

  • Added expansion size/age of onset correlation for epileptic phenotype DRPLA_ATN1
  • Added guatemala to SCA10_ATXN10 prevalence
  • Added SCA2_ATXN2 cognitive symptoms
  • Added expanded circRNA for SCA7_ATXN7
  • Added SCA27B_FGF14 cognitive symptoms

Checklist

  • Check I've included all literature since the last "Literature Update" PR (may need to diff against an earlier version)
  • Check for updates to existing loci
  • Check for potential new loci
  • Add any changes to STRchive-loci.json as commits to this branch/PR
  • If anything needs to be discussed further before adding to STRchive, add it to Discussions
  • Check all tests pass e.g. the website built
  • Check that the website preview looks good
  • Update the STRchive version in CITATION.cff, format X.Y.Z. If any major changes, increment Y. If only minor changes, increment Z. If the breaking change (rare), increment X.
  • Ask someone to review this PR

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gaberbz and others added 10 commits July 6, 2026 10:17
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
@gaberbz gaberbz self-assigned this Jul 7, 2026
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2 participants