Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP25740.RAfdoKBuab_P8pdA-mZP0FRXX8MWg27lAc9Fd8nDuWMFM130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP25740.RAfdoKBuab_P8pdA-mZP0FRXX8MWg27lAc9Fd8nDuWMFM130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP25740.RAfdoKBuab_P8pdA-mZP0FRXX8MWg27lAc9Fd8nDuWMFM130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP25740.RAfdoKBuab_P8pdA-mZP0FRXX8MWg27lAc9Fd8nDuWMFM130_provenance.
- ctd_human-20150221 importedOn "2015-02-21" NP25740.RAfdoKBuab_P8pdA-mZP0FRXX8MWg27lAc9Fd8nDuWMFM130_provenance.
- NP25740.RAfdoKBuab_P8pdA-mZP0FRXX8MWg27lAc9Fd8nDuWMFM130_assertion wasGeneratedBy ECO_0000218 NP25740.RAfdoKBuab_P8pdA-mZP0FRXX8MWg27lAc9Fd8nDuWMFM130_provenance.
- NP25740.RAfdoKBuab_P8pdA-mZP0FRXX8MWg27lAc9Fd8nDuWMFM130_assertion wasDerivedFrom ctd_human-20150221 NP25740.RAfdoKBuab_P8pdA-mZP0FRXX8MWg27lAc9Fd8nDuWMFM130_provenance.
- NP25740.RAfdoKBuab_P8pdA-mZP0FRXX8MWg27lAc9Fd8nDuWMFM130_assertion SIO_000772 12640453 NP25740.RAfdoKBuab_P8pdA-mZP0FRXX8MWg27lAc9Fd8nDuWMFM130_provenance.
- NP25740.RAfdoKBuab_P8pdA-mZP0FRXX8MWg27lAc9Fd8nDuWMFM130_assertion evidence source_evidence_curated NP25740.RAfdoKBuab_P8pdA-mZP0FRXX8MWg27lAc9Fd8nDuWMFM130_provenance.
- NP25740.RAfdoKBuab_P8pdA-mZP0FRXX8MWg27lAc9Fd8nDuWMFM130_assertion description "[Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP25740.RAfdoKBuab_P8pdA-mZP0FRXX8MWg27lAc9Fd8nDuWMFM130_provenance.