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@Macayla-weiner Macayla-weiner commented Aug 6, 2025

Description

July lit update presented a proposed correlation between ATXN2 and SCA3-related ALS risks. Another PLIN4 paper was published, giving pathogenic range, age onset, and ancestry details.

Fixes: # N/A

Major Changes

  • PLIN4 pathogenic min decreased from 39 to 37

Minor Changes

  • Minor update to SCA3
  • PLIN4 pathogenic min, age onset upper bound, and ancestry details updated
  • FRDA description updated

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

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@Macayla-weiner
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Wrote in vitro but didn't know how to italicize, also unsure why deploy preview failed

@hdashnow
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hdashnow commented Aug 7, 2025

I made a few updates. I'm still a bit confused about the pathogenic range and wonder if there's an additional pathogenic motif that should be included. I'm going to do a bit more reading and revisit this.

FXN update

update citations and plots
@hdashnow hdashnow mentioned this pull request Aug 12, 2025
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@hdashnow
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I split MODY8 off into a separate PR #252 and removed it from this one so we can proceed with the July lit update

@hdashnow hdashnow changed the title July lit update + MODY July lit update Aug 12, 2025
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Looks good to me

@hdashnow hdashnow merged commit 141dffb into main Aug 12, 2025
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@hdashnow hdashnow deleted the July-Lit-Update branch August 12, 2025 18:23
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3 participants