Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1449188.RAbJYJRM7Y_GcKxId7y0_mju2AiiQ0awtpKmUtAQb7xyc#assertion> ?p ?o ?g. }
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- assertion description "[EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_curated provenance.
- assertion SIO_000772 24292273 provenance.
- assertion wasDerivedFrom UNIPROT provenance.
- assertion wasGeneratedBy ECO_0000218 provenance.