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FMR1_FXTAS,POF1-critria-update#432

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hdashnow merged 2 commits into
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FXTAS,POF1_FMR1-critria-update
May 23, 2026
Merged

FMR1_FXTAS,POF1-critria-update#432
hdashnow merged 2 commits into
mainfrom
FXTAS,POF1_FMR1-critria-update

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@elbayaliyev

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Description

Updated the FMR1_FXTAS,POF1 criTRia JSON curation entry to refine evidence details and add a root-level description. The case-control evidence row for pmid:17427188 was flagged for curator review because the cited study supports a carrier cohort/repeat-length correlation, not a matched case-control enrichment analysis.

Fixes: # (#431)

Major Changes

  • None

Minor Changes

  • Added concise evidence details for FMR1 FXTAS/POF1 evidence rows
  • Added root-level Description
  • Flagged the Case-control data row for curator review because pmid:17427188 does not appear to support case-control evidence
    Review FMR1 FXTAS/POF1 case-control evidence assignment #431
  • Clarified that experimental evidence from pmid:18057320 is indirect and based on blood-derived molecular measurements

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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@hdashnow hdashnow force-pushed the FXTAS,POF1_FMR1-critria-update branch from 0d4b594 to c041daa Compare May 23, 2026 17:52
…ome less well supported evidence. Add POI size relationship and FMR1 mouse model
@hdashnow hdashnow force-pushed the FXTAS,POF1_FMR1-critria-update branch from 45a0f8c to a5cc32a Compare May 23, 2026 23:37
@hdashnow hdashnow merged commit be58403 into main May 23, 2026
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@hdashnow hdashnow deleted the FXTAS,POF1_FMR1-critria-update branch May 23, 2026 23:58
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2 participants