Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP826353.RAA0LIU9PkYfWZYwzvc6kYOZSUbHwndk0iJAHBlIu6S58130_assertion> ?p ?o ?g. }
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- NP826353.RAA0LIU9PkYfWZYwzvc6kYOZSUbHwndk0iJAHBlIu6S58130_assertion type Assertion NP826353.RAA0LIU9PkYfWZYwzvc6kYOZSUbHwndk0iJAHBlIu6S58130_head.
- NP826353.RAA0LIU9PkYfWZYwzvc6kYOZSUbHwndk0iJAHBlIu6S58130_assertion description "[A mutation in the PTH/PTHrP receptor is, however, the most likely cause of Jansen-type metaphyseal chondrodysplasia, a rare form of short-limbed dwarfism which is associated with severe hypercalcemia despite normal or low levels of circulating PTH and PTHrP.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP826353.RAA0LIU9PkYfWZYwzvc6kYOZSUbHwndk0iJAHBlIu6S58130_provenance.
- NP826353.RAA0LIU9PkYfWZYwzvc6kYOZSUbHwndk0iJAHBlIu6S58130_assertion evidence source_evidence_literature NP826353.RAA0LIU9PkYfWZYwzvc6kYOZSUbHwndk0iJAHBlIu6S58130_provenance.
- NP826353.RAA0LIU9PkYfWZYwzvc6kYOZSUbHwndk0iJAHBlIu6S58130_assertion SIO_000772 8579896 NP826353.RAA0LIU9PkYfWZYwzvc6kYOZSUbHwndk0iJAHBlIu6S58130_provenance.
- NP826353.RAA0LIU9PkYfWZYwzvc6kYOZSUbHwndk0iJAHBlIu6S58130_assertion wasDerivedFrom befree-20140225 NP826353.RAA0LIU9PkYfWZYwzvc6kYOZSUbHwndk0iJAHBlIu6S58130_provenance.
- NP826353.RAA0LIU9PkYfWZYwzvc6kYOZSUbHwndk0iJAHBlIu6S58130_assertion wasGeneratedBy ECO_0000203 NP826353.RAA0LIU9PkYfWZYwzvc6kYOZSUbHwndk0iJAHBlIu6S58130_provenance.