Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP547609.RAKstMnAtpcdL2GK9T9ACm-SgrFe4i__tbkddhstSJby0130_assertion> ?p ?o ?g. }
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- NP547609.RAKstMnAtpcdL2GK9T9ACm-SgrFe4i__tbkddhstSJby0130_assertion type Assertion NP547609.RAKstMnAtpcdL2GK9T9ACm-SgrFe4i__tbkddhstSJby0130_head.
- 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.