Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP226765.RANMcUVPdyyiB_pnf94EvetrpWUV3cQ0vNVZ1cHsfC4FE#assertion> ?p ?o ?g. }
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- assertion description "[Having explained the digital findings and macrocephaly, the skeletal changes were thought to fit best congenital spondyloepiphyseal dysplasia (SEDC MIM #183900), a type II collagen disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 10678662 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.