Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP21837.RA2SYAKgu3-yiYD2lT7VhP1Rq89sPX6u5V17fP3qslfWQ130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP21837.RA2SYAKgu3-yiYD2lT7VhP1Rq89sPX6u5V17fP3qslfWQ130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP21837.RA2SYAKgu3-yiYD2lT7VhP1Rq89sPX6u5V17fP3qslfWQ130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP21837.RA2SYAKgu3-yiYD2lT7VhP1Rq89sPX6u5V17fP3qslfWQ130_provenance.
- NP21837.RA2SYAKgu3-yiYD2lT7VhP1Rq89sPX6u5V17fP3qslfWQ130_assertion description "[Here we present two additional patients with severe MR, autism spectrum disorder and epilepsy, carrying a very small deletion encompassing the MEF2C gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP21837.RA2SYAKgu3-yiYD2lT7VhP1Rq89sPX6u5V17fP3qslfWQ130_provenance.
- NP21837.RA2SYAKgu3-yiYD2lT7VhP1Rq89sPX6u5V17fP3qslfWQ130_assertion evidence source_evidence_curated NP21837.RA2SYAKgu3-yiYD2lT7VhP1Rq89sPX6u5V17fP3qslfWQ130_provenance.
- NP21837.RA2SYAKgu3-yiYD2lT7VhP1Rq89sPX6u5V17fP3qslfWQ130_assertion SIO_000772 20412115 NP21837.RA2SYAKgu3-yiYD2lT7VhP1Rq89sPX6u5V17fP3qslfWQ130_provenance.
- NP21837.RA2SYAKgu3-yiYD2lT7VhP1Rq89sPX6u5V17fP3qslfWQ130_assertion wasDerivedFrom ctd_human-20150221 NP21837.RA2SYAKgu3-yiYD2lT7VhP1Rq89sPX6u5V17fP3qslfWQ130_provenance.
- NP21837.RA2SYAKgu3-yiYD2lT7VhP1Rq89sPX6u5V17fP3qslfWQ130_assertion wasGeneratedBy ECO_0000218 NP21837.RA2SYAKgu3-yiYD2lT7VhP1Rq89sPX6u5V17fP3qslfWQ130_provenance.
- ctd_human-20150221 importedOn "2015-02-21" NP21837.RA2SYAKgu3-yiYD2lT7VhP1Rq89sPX6u5V17fP3qslfWQ130_provenance.