Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP452033.RARVar2HXAw_vcApBU7-OrXNwwCqiZceB-2vrnwcMpanw#assertion> ?p ?o ?g. }
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- assertion description "[A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_curated provenance.
- assertion SIO_000772 24549054 provenance.
- assertion wasDerivedFrom UNIPROT provenance.
- assertion wasGeneratedBy ECO_0000218 provenance.