Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP262.RArTRNYF8f4bDE5bRqleyoN6hNb_pi44qf4LggQc4th28130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP262.RArTRNYF8f4bDE5bRqleyoN6hNb_pi44qf4LggQc4th28130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP262.RArTRNYF8f4bDE5bRqleyoN6hNb_pi44qf4LggQc4th28130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP262.RArTRNYF8f4bDE5bRqleyoN6hNb_pi44qf4LggQc4th28130_provenance.
- NP262.RArTRNYF8f4bDE5bRqleyoN6hNb_pi44qf4LggQc4th28130_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." NP262.RArTRNYF8f4bDE5bRqleyoN6hNb_pi44qf4LggQc4th28130_provenance.
- NP262.RArTRNYF8f4bDE5bRqleyoN6hNb_pi44qf4LggQc4th28130_assertion evidence source_evidence_curated NP262.RArTRNYF8f4bDE5bRqleyoN6hNb_pi44qf4LggQc4th28130_provenance.
- NP262.RArTRNYF8f4bDE5bRqleyoN6hNb_pi44qf4LggQc4th28130_assertion SIO_000772 15467982 NP262.RArTRNYF8f4bDE5bRqleyoN6hNb_pi44qf4LggQc4th28130_provenance.
- NP262.RArTRNYF8f4bDE5bRqleyoN6hNb_pi44qf4LggQc4th28130_assertion wasDerivedFrom uniprot-20130724 NP262.RArTRNYF8f4bDE5bRqleyoN6hNb_pi44qf4LggQc4th28130_provenance.
- NP262.RArTRNYF8f4bDE5bRqleyoN6hNb_pi44qf4LggQc4th28130_assertion wasGeneratedBy ECO_0000218 NP262.RArTRNYF8f4bDE5bRqleyoN6hNb_pi44qf4LggQc4th28130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP262.RArTRNYF8f4bDE5bRqleyoN6hNb_pi44qf4LggQc4th28130_provenance.