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NUTM2B-AS1_OPML1-critria-update#421

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hdashnow merged 4 commits into
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NUTM2B-AS1_OPML1-critria-update
May 23, 2026
Merged

NUTM2B-AS1_OPML1-critria-update#421
hdashnow merged 4 commits into
mainfrom
NUTM2B-AS1_OPML1-critria-update

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@elbayaliyev

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Description

Updated the OPML1/NUTM2B-AS1 criTRia entry by adding a concise root-level description and improving evidence detail fields for probands, segregation, biochemical function, protein interaction, and patient-cell evidence. The regulatory impact evidence detail was left blank/pending curator review because the cited paper does not clearly support a positive regulatory-impact finding.

Fixes: # #420

Major Changes

  • None

Minor Changes

  • Added root-level OPML1/NUTM2B-AS1 disease-locus description
  • Replaced vague/null evidence details with concise PMID-supported summaries
  • Clarified proband evidence across PMID:31332380, PMID:37923380, and PMID:39308795
  • Added segregation detail from PMID:31332380
  • Added experimental evidence details from PMID:38159879
  • Flagged regulatory impact evidence for curator review

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 NUTM2B-AS1_OPML1-critria-update branch from 1e90e85 to 83bf79f Compare May 23, 2026 17:30
@hdashnow hdashnow merged commit df4dde9 into main May 23, 2026
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@hdashnow hdashnow deleted the NUTM2B-AS1_OPML1-critria-update branch May 23, 2026 18:11
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2 participants