DRPLA_ATN1-critria-update

[elbayaliyev]

Description

Updated the ATN1/DRPLA criTRia JSON evidence details and root-level description based on the available uploaded/source-mapped literature.

Issues: #429

Major Changes

• None

Minor Changes

• Added a concise root-level DRPLA description for the ATN1 CAG repeat locus.
• Expanded proband evidence detail for PMID:6808417 to describe the five-family clinical-neuropathologic series and autosomal dominant inheritance.
• Added regulatory impact evidence detail for PMID:7842016 describing ATN1 transcript expression.
• Left unsupported/uncertain evidence-detail fields blank for curator review:
  Curator review needed for ATN1/DRPLA evidence items #429
  • Allele evidence PMID:4114795
  • Protein interaction PMID:7842016
  • Patient cells PMID:7842016
  • Non-human model organism PMID:7842016

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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