Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP596423.RA29i3ZRvCN6MllWVmv7VmX6AtWHgW3qlhtqVwPsoP71Q130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP596423.RA29i3ZRvCN6MllWVmv7VmX6AtWHgW3qlhtqVwPsoP71Q130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP596423.RA29i3ZRvCN6MllWVmv7VmX6AtWHgW3qlhtqVwPsoP71Q130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP596423.RA29i3ZRvCN6MllWVmv7VmX6AtWHgW3qlhtqVwPsoP71Q130_provenance.
- NP596423.RA29i3ZRvCN6MllWVmv7VmX6AtWHgW3qlhtqVwPsoP71Q130_assertion description "[A de novo 9q33.3-q34.11 microdeletion involving STXBP1 has been found in one of four individuals (group A) with early-onset West syndrome, severe hypomyelination, poor visual attention, and developmental delay.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP596423.RA29i3ZRvCN6MllWVmv7VmX6AtWHgW3qlhtqVwPsoP71Q130_provenance.
- NP596423.RA29i3ZRvCN6MllWVmv7VmX6AtWHgW3qlhtqVwPsoP71Q130_assertion evidence source_evidence_literature NP596423.RA29i3ZRvCN6MllWVmv7VmX6AtWHgW3qlhtqVwPsoP71Q130_provenance.
- NP596423.RA29i3ZRvCN6MllWVmv7VmX6AtWHgW3qlhtqVwPsoP71Q130_assertion SIO_000772 20493457 NP596423.RA29i3ZRvCN6MllWVmv7VmX6AtWHgW3qlhtqVwPsoP71Q130_provenance.
- NP596423.RA29i3ZRvCN6MllWVmv7VmX6AtWHgW3qlhtqVwPsoP71Q130_assertion wasDerivedFrom befree-20140225 NP596423.RA29i3ZRvCN6MllWVmv7VmX6AtWHgW3qlhtqVwPsoP71Q130_provenance.
- NP596423.RA29i3ZRvCN6MllWVmv7VmX6AtWHgW3qlhtqVwPsoP71Q130_assertion wasGeneratedBy ECO_0000203 NP596423.RA29i3ZRvCN6MllWVmv7VmX6AtWHgW3qlhtqVwPsoP71Q130_provenance.
- befree-20140225 importedOn "2014-02-25" NP596423.RA29i3ZRvCN6MllWVmv7VmX6AtWHgW3qlhtqVwPsoP71Q130_provenance.