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Macayla weiner may lit#183

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Macayla-weiner wants to merge 3 commits intodashnowlab:update-datafrom
Macayla-weiner:Macayla-weiner-May-Lit
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Macayla weiner may lit#183
Macayla-weiner wants to merge 3 commits intodashnowlab:update-datafrom
Macayla-weiner:Macayla-weiner-May-Lit

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@Macayla-weiner Macayla-weiner commented May 9, 2025

Description

Revised May-lit

Summarize the changes

Fixes: 7

0 Major Changes

Minor Changes

  • Japanese and Chinese cohorts added to OPDM
  • Noted mechanism for ASD mimicing splicing in DM1
  • Noted association between DM1 and ASD/related traits
  • Added Italian cohort for SCA27B
  • Fixed typo in HTT: associated vs assocated
  • Noted JPH3 founder mutation in African ancestry
  • Lowest age onset of SCA4 changed to 12 from 15

Checklist

  • All changes are well summarized
  • Check all tests pass
  • 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

Founder mutation JPH3 found in individuals of African Ancestry (founder population).
JPH3 found as possible founder mutation in African [founder] population
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netlify bot commented May 9, 2025

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@hdashnow hdashnow changed the base branch from main to update-data May 12, 2025 15:15
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Closing as already added these changes in a different PR

@hdashnow hdashnow closed this May 12, 2025
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2 participants