Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1211396.RAKCoDExb9bYoiMlc9jGBqy3wxmPOGUPK8GKiarYgQ0ro#assertion> ?p ?o ?g. }
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- assertion description "[Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 21267004 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.