Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP6460.RAlIICGIhTfrVREHVt1oARJzT7sw_EONo0RfIkm_V0HYg130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP6460.RAlIICGIhTfrVREHVt1oARJzT7sw_EONo0RfIkm_V0HYg130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP6460.RAlIICGIhTfrVREHVt1oARJzT7sw_EONo0RfIkm_V0HYg130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP6460.RAlIICGIhTfrVREHVt1oARJzT7sw_EONo0RfIkm_V0HYg130_provenance.
- NP6460.RAlIICGIhTfrVREHVt1oARJzT7sw_EONo0RfIkm_V0HYg130_assertion description "[Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6460.RAlIICGIhTfrVREHVt1oARJzT7sw_EONo0RfIkm_V0HYg130_provenance.
- NP6460.RAlIICGIhTfrVREHVt1oARJzT7sw_EONo0RfIkm_V0HYg130_assertion evidence source_evidence_curated NP6460.RAlIICGIhTfrVREHVt1oARJzT7sw_EONo0RfIkm_V0HYg130_provenance.
- NP6460.RAlIICGIhTfrVREHVt1oARJzT7sw_EONo0RfIkm_V0HYg130_assertion SIO_000772 17273972 NP6460.RAlIICGIhTfrVREHVt1oARJzT7sw_EONo0RfIkm_V0HYg130_provenance.
- NP6460.RAlIICGIhTfrVREHVt1oARJzT7sw_EONo0RfIkm_V0HYg130_assertion wasDerivedFrom uniprot-20130724 NP6460.RAlIICGIhTfrVREHVt1oARJzT7sw_EONo0RfIkm_V0HYg130_provenance.
- NP6460.RAlIICGIhTfrVREHVt1oARJzT7sw_EONo0RfIkm_V0HYg130_assertion wasGeneratedBy ECO_0000218 NP6460.RAlIICGIhTfrVREHVt1oARJzT7sw_EONo0RfIkm_V0HYg130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP6460.RAlIICGIhTfrVREHVt1oARJzT7sw_EONo0RfIkm_V0HYg130_provenance.