Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP10882.RAAJg19eIMBy67Ee2N4X3hv-GEPcF8JJfm3bQJpEiDRHo130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP10882.RAAJg19eIMBy67Ee2N4X3hv-GEPcF8JJfm3bQJpEiDRHo130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP10882.RAAJg19eIMBy67Ee2N4X3hv-GEPcF8JJfm3bQJpEiDRHo130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP10882.RAAJg19eIMBy67Ee2N4X3hv-GEPcF8JJfm3bQJpEiDRHo130_provenance.
- ctd_human-2016 importedOn "2016-01-25" NP10882.RAAJg19eIMBy67Ee2N4X3hv-GEPcF8JJfm3bQJpEiDRHo130_provenance.
- NP10882.RAAJg19eIMBy67Ee2N4X3hv-GEPcF8JJfm3bQJpEiDRHo130_assertion wasGeneratedBy ECO_0000218 NP10882.RAAJg19eIMBy67Ee2N4X3hv-GEPcF8JJfm3bQJpEiDRHo130_provenance.
- NP10882.RAAJg19eIMBy67Ee2N4X3hv-GEPcF8JJfm3bQJpEiDRHo130_assertion wasDerivedFrom ctd_human-2016 NP10882.RAAJg19eIMBy67Ee2N4X3hv-GEPcF8JJfm3bQJpEiDRHo130_provenance.
- NP10882.RAAJg19eIMBy67Ee2N4X3hv-GEPcF8JJfm3bQJpEiDRHo130_assertion SIO_000772 10930571 NP10882.RAAJg19eIMBy67Ee2N4X3hv-GEPcF8JJfm3bQJpEiDRHo130_provenance.
- NP10882.RAAJg19eIMBy67Ee2N4X3hv-GEPcF8JJfm3bQJpEiDRHo130_assertion evidence source_evidence_curated NP10882.RAAJg19eIMBy67Ee2N4X3hv-GEPcF8JJfm3bQJpEiDRHo130_provenance.
- NP10882.RAAJg19eIMBy67Ee2N4X3hv-GEPcF8JJfm3bQJpEiDRHo130_assertion description "[A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP10882.RAAJg19eIMBy67Ee2N4X3hv-GEPcF8JJfm3bQJpEiDRHo130_provenance.