Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP971579.RAXSTXEt5tb0FTkfj36yIUAUKUR4_Uindu2Wl95s_iINk130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP971579.RAXSTXEt5tb0FTkfj36yIUAUKUR4_Uindu2Wl95s_iINk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP971579.RAXSTXEt5tb0FTkfj36yIUAUKUR4_Uindu2Wl95s_iINk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP971579.RAXSTXEt5tb0FTkfj36yIUAUKUR4_Uindu2Wl95s_iINk130_provenance.
- NP971579.RAXSTXEt5tb0FTkfj36yIUAUKUR4_Uindu2Wl95s_iINk130_assertion description "[Two additional cases were heterozygous for de novo missense mutations in PRKAR1A, which encodes the cAMP-dependent regulatory subunit of protein kinase A and which has been recently reported to be the cause of a form of acrodysostosis resistant to multiple hormones.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP971579.RAXSTXEt5tb0FTkfj36yIUAUKUR4_Uindu2Wl95s_iINk130_provenance.
- NP971579.RAXSTXEt5tb0FTkfj36yIUAUKUR4_Uindu2Wl95s_iINk130_assertion evidence source_evidence_literature NP971579.RAXSTXEt5tb0FTkfj36yIUAUKUR4_Uindu2Wl95s_iINk130_provenance.
- NP971579.RAXSTXEt5tb0FTkfj36yIUAUKUR4_Uindu2Wl95s_iINk130_assertion SIO_000772 22464252 NP971579.RAXSTXEt5tb0FTkfj36yIUAUKUR4_Uindu2Wl95s_iINk130_provenance.
- NP971579.RAXSTXEt5tb0FTkfj36yIUAUKUR4_Uindu2Wl95s_iINk130_assertion wasDerivedFrom befree-2016 NP971579.RAXSTXEt5tb0FTkfj36yIUAUKUR4_Uindu2Wl95s_iINk130_provenance.
- NP971579.RAXSTXEt5tb0FTkfj36yIUAUKUR4_Uindu2Wl95s_iINk130_assertion wasGeneratedBy ECO_0000203 NP971579.RAXSTXEt5tb0FTkfj36yIUAUKUR4_Uindu2Wl95s_iINk130_provenance.
- befree-2016 importedOn "2016-02-19" NP971579.RAXSTXEt5tb0FTkfj36yIUAUKUR4_Uindu2Wl95s_iINk130_provenance.