| Deliverable now (without citable contexts) | Blocked until sources are retrievable |
|---|---|
| Retrieval audit of this run (0 papers, 0 trials, OpenTargets failure) | PMID-cited EDN3/EDNRB Waardenburg–Shah disease report |
| Report scaffold aligned to the 15-section disease template | 2023–2024 literature update with source-backed findings |
| Reproducible query list for next-run retrieval | Direct abstract quotes with PMID/DOI, URL, and publication date |
| Minimum source set needed (OMIM, Orphanet, GeneReviews, ClinVar, gnomAD, MGI/IMPC, key PubMed papers) | Verified disease identifiers and synonym mappings with citations |
| Table of knowledge-base fields still pending evidence | Phenotype frequencies, cohort statistics, and prognosis estimates |
| Technical note documenting why no cited synthesis was possible | Ontology mappings (HPO, GO, CL, UBERON, MAXO, MONDO) tied to source evidence |
| Retrieval remediation checklist (seed PMIDs/DOIs/PDFs, enable scholar/PubMed access) | Variant-level assertions, genotype–phenotype correlations, and management recommendations with primary-literature support |


*Table: This table separates artifacts that can be produced immediately from deliverables that require retrievable source documents. It is useful for clarifying current output limits and what is needed for a fully cited disease report.*