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PLIN4 / MRUPAV curation update#408

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hdashnow merged 4 commits into
curation-detailsfrom
MRUPAV_PLIN4
May 15, 2026
Merged

PLIN4 / MRUPAV curation update#408
hdashnow merged 4 commits into
curation-detailsfrom
MRUPAV_PLIN4

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@elbayaliyev
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@elbayaliyev elbayaliyev commented May 13, 2026

Description

Update PLIN4 / MRUPAV criTRia curation evidence details and description.

Major Changes

  • No new locus, pathogenic threshold, coordinate, feature, or data field added.
  • No scores, category summaries, total score, classification, publication count, or publication interval were changed.

Minor Changes

  • Added root-level Description for PLIN4 / MRUPAV.
  • Updated vague evidence-detail text for:
    • Probands
    • Computational
    • Segregation
    • Biochemical function
    • Protein interaction
    • Regulatory impact
    • Patient cells
  • Left curator-review items blank/pending in the updated JSON for:
    • Allele evidence — PMID:37145156
    • Cell culture evidence — PMID:40693562
  • Preserved original criTRia schema and existing score structure.

Curator Review Needed

#407

  • Allele evidence — PMID:37145156

    • Current score: 1.0
    • Review whether this paper supports allele-size correlation, pathogenic threshold, or anticipation evidence. The available evidence appears cohort/phenotype-focused rather than clear allele-level evidence.
  • Cell culture evidence — PMID:40693562

    • Current score: 1.0
    • Review whether this should remain under Cell culture evidence. The cited work appears to support patient/control muscle tissue and molecular assays rather than an in vitro cell-culture model.

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 changed the title Update criTRia-curations.json PLIN4 / MRUPAV curation update May 14, 2026
@hdashnow hdashnow changed the base branch from main to curation-details May 15, 2026 20:10
@hdashnow hdashnow merged commit c112b9f into curation-details May 15, 2026
1 of 2 checks passed
@hdashnow hdashnow deleted the MRUPAV_PLIN4 branch May 15, 2026 20:11
hdashnow added a commit that referenced this pull request May 15, 2026
## Description

Update PLIN4 / MRUPAV criTRia curation evidence details and description.


## Major Changes

- No new locus, pathogenic threshold, coordinate, feature, or data field
added.
- No scores, category summaries, total score, classification,
publication count, or publication interval were changed.

## Minor Changes

- Added root-level `Description` for PLIN4 / MRUPAV.
- Updated vague evidence-detail text for:
  - Probands
  - Computational
  - Segregation
  - Biochemical function
  - Protein interaction
  - Regulatory impact
  - Patient cells
- Left curator-review items blank/pending in the updated JSON for:
  - **Allele evidence — PMID:37145156**
  - **Cell culture evidence — PMID:40693562**
- Preserved original criTRia schema and existing score structure.

## Curator Review Needed
#407
- **Allele evidence — PMID:37145156**
  - Current score: 1.0
- Review whether this paper supports allele-size correlation, pathogenic
threshold, or anticipation evidence. The available evidence appears
cohort/phenotype-focused rather than clear allele-level evidence.

- **Cell culture evidence — PMID:40693562**
  - Current score: 1.0
- Review whether this should remain under Cell culture evidence. The
cited work appears to support patient/control muscle tissue and
molecular assays rather than an in vitro cell-culture model.

## 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

---------

Co-authored-by: elbayaliyev <220058060+elbayaliyev@users.noreply.github.com>
Co-authored-by: Harriet Dashnow <h.dashnow@gmail.com>
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2 participants