Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1294575.RAYhY1esLT2BFOyE0MVEwnNItyPEiLE5T3pyv38-GOVsg130_assertion> ?p ?o ?g. }
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- NP1294575.RAYhY1esLT2BFOyE0MVEwnNItyPEiLE5T3pyv38-GOVsg130_assertion type Assertion NP1294575.RAYhY1esLT2BFOyE0MVEwnNItyPEiLE5T3pyv38-GOVsg130_head.
- NP1294575.RAYhY1esLT2BFOyE0MVEwnNItyPEiLE5T3pyv38-GOVsg130_assertion description "[Deficiency of MVK is associated with two rare periodic fever syndromes, mevalonic aciduria (MA), a severe form and hyper-immunoglobulin-D syndrome (HIDS), a milder form.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1294575.RAYhY1esLT2BFOyE0MVEwnNItyPEiLE5T3pyv38-GOVsg130_provenance.
- NP1294575.RAYhY1esLT2BFOyE0MVEwnNItyPEiLE5T3pyv38-GOVsg130_assertion evidence source_evidence_literature NP1294575.RAYhY1esLT2BFOyE0MVEwnNItyPEiLE5T3pyv38-GOVsg130_provenance.
- NP1294575.RAYhY1esLT2BFOyE0MVEwnNItyPEiLE5T3pyv38-GOVsg130_assertion SIO_000772 26420133 NP1294575.RAYhY1esLT2BFOyE0MVEwnNItyPEiLE5T3pyv38-GOVsg130_provenance.
- NP1294575.RAYhY1esLT2BFOyE0MVEwnNItyPEiLE5T3pyv38-GOVsg130_assertion wasDerivedFrom befree-2016 NP1294575.RAYhY1esLT2BFOyE0MVEwnNItyPEiLE5T3pyv38-GOVsg130_provenance.
- NP1294575.RAYhY1esLT2BFOyE0MVEwnNItyPEiLE5T3pyv38-GOVsg130_assertion wasGeneratedBy ECO_0000203 NP1294575.RAYhY1esLT2BFOyE0MVEwnNItyPEiLE5T3pyv38-GOVsg130_provenance.