Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP26956.RA3o4SqJdvZazfCsQ61eFP0LvydDxVQXZMXnd72StqTJ4130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP26956.RA3o4SqJdvZazfCsQ61eFP0LvydDxVQXZMXnd72StqTJ4130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP26956.RA3o4SqJdvZazfCsQ61eFP0LvydDxVQXZMXnd72StqTJ4130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP26956.RA3o4SqJdvZazfCsQ61eFP0LvydDxVQXZMXnd72StqTJ4130_provenance.
- NP26956.RA3o4SqJdvZazfCsQ61eFP0LvydDxVQXZMXnd72StqTJ4130_assertion description "[The clinical similarity of our family to these patients with mutations in PQBP1, particularly the presence of microcephaly, short stature, and atrial septal defect, prompted examination of this gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP26956.RA3o4SqJdvZazfCsQ61eFP0LvydDxVQXZMXnd72StqTJ4130_provenance.
- NP26956.RA3o4SqJdvZazfCsQ61eFP0LvydDxVQXZMXnd72StqTJ4130_assertion evidence source_evidence_curated NP26956.RA3o4SqJdvZazfCsQ61eFP0LvydDxVQXZMXnd72StqTJ4130_provenance.
- NP26956.RA3o4SqJdvZazfCsQ61eFP0LvydDxVQXZMXnd72StqTJ4130_assertion SIO_000772 16740914 NP26956.RA3o4SqJdvZazfCsQ61eFP0LvydDxVQXZMXnd72StqTJ4130_provenance.
- NP26956.RA3o4SqJdvZazfCsQ61eFP0LvydDxVQXZMXnd72StqTJ4130_assertion wasDerivedFrom ctd_human-20150221 NP26956.RA3o4SqJdvZazfCsQ61eFP0LvydDxVQXZMXnd72StqTJ4130_provenance.
- NP26956.RA3o4SqJdvZazfCsQ61eFP0LvydDxVQXZMXnd72StqTJ4130_assertion wasGeneratedBy ECO_0000218 NP26956.RA3o4SqJdvZazfCsQ61eFP0LvydDxVQXZMXnd72StqTJ4130_provenance.
- ctd_human-20150221 importedOn "2015-02-21" NP26956.RA3o4SqJdvZazfCsQ61eFP0LvydDxVQXZMXnd72StqTJ4130_provenance.