A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery.
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HGG Adv. 2024 Oct 10;6(1):100371. doi: 10.1016/j.xhgg.2024.100371. Online ahead of print.
HGG Adv. 2024.
PMID: 39394689
Free PMC article.