Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP7803.RAWqkFIsP-Iw4rnzeYADBkyV9fOFcPrXhUwvxv4XZ0Cvs130_assertion> ?p ?o ?g. }
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- NP7803.RAWqkFIsP-Iw4rnzeYADBkyV9fOFcPrXhUwvxv4XZ0Cvs130_assertion type Assertion NP7803.RAWqkFIsP-Iw4rnzeYADBkyV9fOFcPrXhUwvxv4XZ0Cvs130_head.
- NP7803.RAWqkFIsP-Iw4rnzeYADBkyV9fOFcPrXhUwvxv4XZ0Cvs130_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." NP7803.RAWqkFIsP-Iw4rnzeYADBkyV9fOFcPrXhUwvxv4XZ0Cvs130_provenance.
- NP7803.RAWqkFIsP-Iw4rnzeYADBkyV9fOFcPrXhUwvxv4XZ0Cvs130_assertion evidence source_evidence_curated NP7803.RAWqkFIsP-Iw4rnzeYADBkyV9fOFcPrXhUwvxv4XZ0Cvs130_provenance.
- NP7803.RAWqkFIsP-Iw4rnzeYADBkyV9fOFcPrXhUwvxv4XZ0Cvs130_assertion SIO_000772 24549054 NP7803.RAWqkFIsP-Iw4rnzeYADBkyV9fOFcPrXhUwvxv4XZ0Cvs130_provenance.
- NP7803.RAWqkFIsP-Iw4rnzeYADBkyV9fOFcPrXhUwvxv4XZ0Cvs130_assertion wasDerivedFrom uniprot-2016 NP7803.RAWqkFIsP-Iw4rnzeYADBkyV9fOFcPrXhUwvxv4XZ0Cvs130_provenance.
- NP7803.RAWqkFIsP-Iw4rnzeYADBkyV9fOFcPrXhUwvxv4XZ0Cvs130_assertion wasGeneratedBy ECO_0000218 NP7803.RAWqkFIsP-Iw4rnzeYADBkyV9fOFcPrXhUwvxv4XZ0Cvs130_provenance.