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TOF_TBX1-critria-update#436

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hdashnow merged 2 commits into
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TOF_TBX1-critria-update
May 22, 2026
Merged

TOF_TBX1-critria-update#436
hdashnow merged 2 commits into
mainfrom
TOF_TBX1-critria-update

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@elbayaliyev

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Description

Updated the TBX1_TOF criTRia curation by refining the root-level description and improving evidence details for the existing proband and mouse model evidence rows. No scores, evidence rows, summaries, total score, classification, publication count, or publication interval were changed. :contentReference[oaicite:0]{index=0}

Fixes: # Link to any relevant issues and/or discussions

Major Changes

  • None

Minor Changes

  • Added a concise curation description for TBX1_TOF.
  • Clarified the proband evidence from PMID:19948535, including the TBX1 c.1399-1428dup30 polyalanine expansion, ToF phenotype, control status, parental testing limitation, and functional findings.
  • Clarified that the PMID:16141220 mouse model evidence is gene-level Tbx1 developmental evidence and not tandem-repeat/locus-specific.
  • Preserved all original scores and classification as Limited.

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 merged commit 8e8d0c5 into main May 22, 2026
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@hdashnow hdashnow deleted the TOF_TBX1-critria-update branch May 22, 2026 02:07
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2 participants