Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP998307.RAUXXBwtqUpBTJMD5aDXouZHP1IH6ZA3rVtkHS33_AvXI#assertion> ?p ?o ?g. }
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- assertion description "[Barth syndrome (BTHS) is a genetic, X-linked, rare but often fatal, pediatric skeletal- and cardiomyopathy occurring due to mutations in the tafazzin gene (TAZ).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_curated provenance.
- assertion SIO_000772 25185984 provenance.
- assertion wasDerivedFrom CTD_human provenance.
- assertion wasGeneratedBy ECO_0000218 provenance.