Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP547609.RAKstMnAtpcdL2GK9T9ACm-SgrFe4i__tbkddhstSJby0130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP547609.RAKstMnAtpcdL2GK9T9ACm-SgrFe4i__tbkddhstSJby0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP547609.RAKstMnAtpcdL2GK9T9ACm-SgrFe4i__tbkddhstSJby0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP547609.RAKstMnAtpcdL2GK9T9ACm-SgrFe4i__tbkddhstSJby0130_provenance.
- NP547609.RAKstMnAtpcdL2GK9T9ACm-SgrFe4i__tbkddhstSJby0130_assertion description "[Heterozygous inactivating mutations of the calcium-sensing receptor (CaR) gene cause familial hypocalciuric hypercalcaemia (FHH), a generally benign disorder characterized by mild to moderate PTH-dependent hypercalcaemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP547609.RAKstMnAtpcdL2GK9T9ACm-SgrFe4i__tbkddhstSJby0130_provenance.
- NP547609.RAKstMnAtpcdL2GK9T9ACm-SgrFe4i__tbkddhstSJby0130_assertion evidence source_evidence_literature NP547609.RAKstMnAtpcdL2GK9T9ACm-SgrFe4i__tbkddhstSJby0130_provenance.
- NP547609.RAKstMnAtpcdL2GK9T9ACm-SgrFe4i__tbkddhstSJby0130_assertion SIO_000772 16649980 NP547609.RAKstMnAtpcdL2GK9T9ACm-SgrFe4i__tbkddhstSJby0130_provenance.
- NP547609.RAKstMnAtpcdL2GK9T9ACm-SgrFe4i__tbkddhstSJby0130_assertion wasDerivedFrom befree-2016 NP547609.RAKstMnAtpcdL2GK9T9ACm-SgrFe4i__tbkddhstSJby0130_provenance.
- NP547609.RAKstMnAtpcdL2GK9T9ACm-SgrFe4i__tbkddhstSJby0130_assertion wasGeneratedBy ECO_0000203 NP547609.RAKstMnAtpcdL2GK9T9ACm-SgrFe4i__tbkddhstSJby0130_provenance.
- befree-2016 importedOn "2016-02-19" NP547609.RAKstMnAtpcdL2GK9T9ACm-SgrFe4i__tbkddhstSJby0130_provenance.