Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP25858.RAvGVpJIkwz_-R-mg_BYQVrBFZfnV3jHosOV-RGT72L2M130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP25858.RAvGVpJIkwz_-R-mg_BYQVrBFZfnV3jHosOV-RGT72L2M130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP25858.RAvGVpJIkwz_-R-mg_BYQVrBFZfnV3jHosOV-RGT72L2M130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP25858.RAvGVpJIkwz_-R-mg_BYQVrBFZfnV3jHosOV-RGT72L2M130_provenance.
- NP25858.RAvGVpJIkwz_-R-mg_BYQVrBFZfnV3jHosOV-RGT72L2M130_assertion description "[Also studied were two siblings who were homozygous for the PITX3 mutation who had microphthalmia and significant neurologic impairment.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP25858.RAvGVpJIkwz_-R-mg_BYQVrBFZfnV3jHosOV-RGT72L2M130_provenance.
- NP25858.RAvGVpJIkwz_-R-mg_BYQVrBFZfnV3jHosOV-RGT72L2M130_assertion evidence source_evidence_curated NP25858.RAvGVpJIkwz_-R-mg_BYQVrBFZfnV3jHosOV-RGT72L2M130_provenance.
- NP25858.RAvGVpJIkwz_-R-mg_BYQVrBFZfnV3jHosOV-RGT72L2M130_assertion SIO_000772 16565358 NP25858.RAvGVpJIkwz_-R-mg_BYQVrBFZfnV3jHosOV-RGT72L2M130_provenance.
- NP25858.RAvGVpJIkwz_-R-mg_BYQVrBFZfnV3jHosOV-RGT72L2M130_assertion wasDerivedFrom ctd_human-20150221 NP25858.RAvGVpJIkwz_-R-mg_BYQVrBFZfnV3jHosOV-RGT72L2M130_provenance.
- NP25858.RAvGVpJIkwz_-R-mg_BYQVrBFZfnV3jHosOV-RGT72L2M130_assertion wasGeneratedBy ECO_0000218 NP25858.RAvGVpJIkwz_-R-mg_BYQVrBFZfnV3jHosOV-RGT72L2M130_provenance.
- ctd_human-20150221 importedOn "2015-02-21" NP25858.RAvGVpJIkwz_-R-mg_BYQVrBFZfnV3jHosOV-RGT72L2M130_provenance.