Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP147380.RAFPHZ_oJOmA4Pkzsg6v5p4Ty0PjDZzPGN88hChmLqvTY130_assertion> ?p ?o ?g. }
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- NP147380.RAFPHZ_oJOmA4Pkzsg6v5p4Ty0PjDZzPGN88hChmLqvTY130_assertion type Assertion NP147380.RAFPHZ_oJOmA4Pkzsg6v5p4Ty0PjDZzPGN88hChmLqvTY130_head.
- NP147380.RAFPHZ_oJOmA4Pkzsg6v5p4Ty0PjDZzPGN88hChmLqvTY130_assertion wasGeneratedBy ECO_0000203 NP147380.RAFPHZ_oJOmA4Pkzsg6v5p4Ty0PjDZzPGN88hChmLqvTY130_provenance.
- NP147380.RAFPHZ_oJOmA4Pkzsg6v5p4Ty0PjDZzPGN88hChmLqvTY130_assertion wasDerivedFrom lhgdn-20090331 NP147380.RAFPHZ_oJOmA4Pkzsg6v5p4Ty0PjDZzPGN88hChmLqvTY130_provenance.
- NP147380.RAFPHZ_oJOmA4Pkzsg6v5p4Ty0PjDZzPGN88hChmLqvTY130_assertion SIO_000772 15960151 NP147380.RAFPHZ_oJOmA4Pkzsg6v5p4Ty0PjDZzPGN88hChmLqvTY130_provenance.
- NP147380.RAFPHZ_oJOmA4Pkzsg6v5p4Ty0PjDZzPGN88hChmLqvTY130_assertion evidence source_evidence_literature NP147380.RAFPHZ_oJOmA4Pkzsg6v5p4Ty0PjDZzPGN88hChmLqvTY130_provenance.
- NP147380.RAFPHZ_oJOmA4Pkzsg6v5p4Ty0PjDZzPGN88hChmLqvTY130_assertion description "[In gain-of-function CaSR mutations, the genetic abnormalities increase CaSR activity leading to the development of such clinical manifestations as hypercalciuric hypocalcemia and hypoparathyroidism.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP147380.RAFPHZ_oJOmA4Pkzsg6v5p4Ty0PjDZzPGN88hChmLqvTY130_provenance.