Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP17238.RAsgzG2Vdu_0QWdpO6gsxI8KCYTix0wTpHPIjPf38MVGY130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP17238.RAsgzG2Vdu_0QWdpO6gsxI8KCYTix0wTpHPIjPf38MVGY130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP17238.RAsgzG2Vdu_0QWdpO6gsxI8KCYTix0wTpHPIjPf38MVGY130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP17238.RAsgzG2Vdu_0QWdpO6gsxI8KCYTix0wTpHPIjPf38MVGY130_provenance.
- NP17238.RAsgzG2Vdu_0QWdpO6gsxI8KCYTix0wTpHPIjPf38MVGY130_assertion description "[Heterozygous and homozygous mutations in PITX3 in a large Lebanese family with posterior polar cataracts and neurodevelopmental abnormalities.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP17238.RAsgzG2Vdu_0QWdpO6gsxI8KCYTix0wTpHPIjPf38MVGY130_provenance.
- NP17238.RAsgzG2Vdu_0QWdpO6gsxI8KCYTix0wTpHPIjPf38MVGY130_assertion evidence source_evidence_curated NP17238.RAsgzG2Vdu_0QWdpO6gsxI8KCYTix0wTpHPIjPf38MVGY130_provenance.
- NP17238.RAsgzG2Vdu_0QWdpO6gsxI8KCYTix0wTpHPIjPf38MVGY130_assertion SIO_000772 16565358 NP17238.RAsgzG2Vdu_0QWdpO6gsxI8KCYTix0wTpHPIjPf38MVGY130_provenance.
- NP17238.RAsgzG2Vdu_0QWdpO6gsxI8KCYTix0wTpHPIjPf38MVGY130_assertion wasDerivedFrom ctd_human-2016 NP17238.RAsgzG2Vdu_0QWdpO6gsxI8KCYTix0wTpHPIjPf38MVGY130_provenance.
- NP17238.RAsgzG2Vdu_0QWdpO6gsxI8KCYTix0wTpHPIjPf38MVGY130_assertion wasGeneratedBy ECO_0000218 NP17238.RAsgzG2Vdu_0QWdpO6gsxI8KCYTix0wTpHPIjPf38MVGY130_provenance.
- ctd_human-2016 importedOn "2016-01-25" NP17238.RAsgzG2Vdu_0QWdpO6gsxI8KCYTix0wTpHPIjPf38MVGY130_provenance.