Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP4072.RAY-xS-YpkdWwCse3QnDHPW56MblcaP6u-DYds0DtfXmY130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP4072.RAY-xS-YpkdWwCse3QnDHPW56MblcaP6u-DYds0DtfXmY130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP4072.RAY-xS-YpkdWwCse3QnDHPW56MblcaP6u-DYds0DtfXmY130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP4072.RAY-xS-YpkdWwCse3QnDHPW56MblcaP6u-DYds0DtfXmY130_provenance.
- NP4072.RAY-xS-YpkdWwCse3QnDHPW56MblcaP6u-DYds0DtfXmY130_assertion description "[Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP4072.RAY-xS-YpkdWwCse3QnDHPW56MblcaP6u-DYds0DtfXmY130_provenance.
- NP4072.RAY-xS-YpkdWwCse3QnDHPW56MblcaP6u-DYds0DtfXmY130_assertion evidence source_evidence_curated NP4072.RAY-xS-YpkdWwCse3QnDHPW56MblcaP6u-DYds0DtfXmY130_provenance.
- NP4072.RAY-xS-YpkdWwCse3QnDHPW56MblcaP6u-DYds0DtfXmY130_assertion SIO_000772 15467982 NP4072.RAY-xS-YpkdWwCse3QnDHPW56MblcaP6u-DYds0DtfXmY130_provenance.
- NP4072.RAY-xS-YpkdWwCse3QnDHPW56MblcaP6u-DYds0DtfXmY130_assertion wasDerivedFrom uniprot-20150221 NP4072.RAY-xS-YpkdWwCse3QnDHPW56MblcaP6u-DYds0DtfXmY130_provenance.
- NP4072.RAY-xS-YpkdWwCse3QnDHPW56MblcaP6u-DYds0DtfXmY130_assertion wasGeneratedBy ECO_0000218 NP4072.RAY-xS-YpkdWwCse3QnDHPW56MblcaP6u-DYds0DtfXmY130_provenance.
- uniprot-20150221 importedOn "2015-02-21" NP4072.RAY-xS-YpkdWwCse3QnDHPW56MblcaP6u-DYds0DtfXmY130_provenance.