EIF4A3–RCPS curation details#423
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hdashnow
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## Description Updated the EIF4A3–RCPS criTRia curation by improving the root-level description and replacing vague/null evidence details with concise, source-supported summaries. Fixes: # ## Major Changes * None ## Minor Changes * Added a root-level `Description` for the EIF4A3–RCPS locus-disease relationship. * Clarified proband evidence from PMID:29112243, including affected individuals/families and biallelic EIF4A3 repeat/missense variants. * Clarified segregation evidence from PMID:24360810, including the 17q25.3 linkage region and LOD score. * Added patient-cell evidence detail from PMID:28334780 describing iPSC-derived neural crest and mesenchymal cell findings. * Clarified mouse and zebrafish model evidence, explicitly noting that these are gene-level EIF4A3 deficiency models rather than repeat-allele-specific models. * No scores, evidence rows, summaries, classification, or publication metadata were changed. ## Checklist * [x] 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>
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Description
Updated the EIF4A3–RCPS criTRia curation by improving the root-level description and replacing vague/null evidence details with concise, source-supported summaries.
Fixes: #
Major Changes
Minor Changes
Descriptionfor the EIF4A3–RCPS locus-disease relationship.Checklist
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.