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Diagnostic_Relevance_and_June_Lit#491

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Diagnostic-Relevance-And-June-Lit
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Diagnostic_Relevance_and_June_Lit#491
gaberbz wants to merge 25 commits into
mainfrom
Diagnostic-Relevance-And-June-Lit

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@gaberbz

@gaberbz gaberbz commented Jun 2, 2026

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Description

Summarize the changes

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

Major Changes

  • New locus or major change to existing locus e.g. pathogenic threshold, coordinate
  • New feature
  • New data field

Minor Changes

  • Minor change to existing locus e.g. new citation
  • Bug or gramatical error fix

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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@gaberbz gaberbz force-pushed the Diagnostic-Relevance-And-June-Lit branch 4 times, most recently from aa73b59 to bec1ff9 Compare June 9, 2026 17:34
gaberbz added 8 commits June 9, 2026 11:56
Update data

Soften claim about age of onset by repeat size correlation

pmid 42096001 found an insignificant correlation between repeat size and age

retrying failed run
minimum OPMD prevalence of 1:600 in this Jewish Bukharian population. Also, added "usually" to autosomal dominant claim because it can be recessive in rare cases, especially when 11/11.
more diagnostic relevance

even more diagnostic relevance
adding single base deletions to MODY_CEL

Add pancreatitis presentation

delete lipase disruption theory and add new details on protein misfolding for MODY8_CEL

adding additional citation

triangulating 3 mechanism papers
@gaberbz gaberbz force-pushed the Diagnostic-Relevance-And-June-Lit branch from bec1ff9 to 9ef64f8 Compare June 9, 2026 17:59
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