Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP604453.RA_dZXyIVAE9Kal3gv2EpnUgNRpnXXW6_80z3KlVnFhMg130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP604453.RA_dZXyIVAE9Kal3gv2EpnUgNRpnXXW6_80z3KlVnFhMg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP604453.RA_dZXyIVAE9Kal3gv2EpnUgNRpnXXW6_80z3KlVnFhMg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP604453.RA_dZXyIVAE9Kal3gv2EpnUgNRpnXXW6_80z3KlVnFhMg130_provenance.
- NP604453.RA_dZXyIVAE9Kal3gv2EpnUgNRpnXXW6_80z3KlVnFhMg130_assertion description "[The screening failed to identify non-synonymous variant in IL1RAPL2, whereas a rare missense (R102Q) in NCS-1/FREQ was identified in one autistic patient.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP604453.RA_dZXyIVAE9Kal3gv2EpnUgNRpnXXW6_80z3KlVnFhMg130_provenance.
- NP604453.RA_dZXyIVAE9Kal3gv2EpnUgNRpnXXW6_80z3KlVnFhMg130_assertion evidence source_evidence_literature NP604453.RA_dZXyIVAE9Kal3gv2EpnUgNRpnXXW6_80z3KlVnFhMg130_provenance.
- NP604453.RA_dZXyIVAE9Kal3gv2EpnUgNRpnXXW6_80z3KlVnFhMg130_assertion SIO_000772 18801879 NP604453.RA_dZXyIVAE9Kal3gv2EpnUgNRpnXXW6_80z3KlVnFhMg130_provenance.
- NP604453.RA_dZXyIVAE9Kal3gv2EpnUgNRpnXXW6_80z3KlVnFhMg130_assertion wasDerivedFrom befree-20140225 NP604453.RA_dZXyIVAE9Kal3gv2EpnUgNRpnXXW6_80z3KlVnFhMg130_provenance.
- NP604453.RA_dZXyIVAE9Kal3gv2EpnUgNRpnXXW6_80z3KlVnFhMg130_assertion wasGeneratedBy ECO_0000203 NP604453.RA_dZXyIVAE9Kal3gv2EpnUgNRpnXXW6_80z3KlVnFhMg130_provenance.
- befree-20140225 importedOn "2014-02-25" NP604453.RA_dZXyIVAE9Kal3gv2EpnUgNRpnXXW6_80z3KlVnFhMg130_provenance.