Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP224811.RAe_mlFiTdB0HUPppHHAM8y48xXBCLJSD0z0uaQ4AIIz8130_assertion> ?p ?o ?g. }
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- NP224811.RAe_mlFiTdB0HUPppHHAM8y48xXBCLJSD0z0uaQ4AIIz8130_assertion type Assertion NP224811.RAe_mlFiTdB0HUPppHHAM8y48xXBCLJSD0z0uaQ4AIIz8130_head.
- NP224811.RAe_mlFiTdB0HUPppHHAM8y48xXBCLJSD0z0uaQ4AIIz8130_assertion description "[identification of a novel CASR gene mutation established the basis of the hypercalcemia in an individual with familial hypocalciuric hypercalcemia (FHH) and his family; concomitant vitamin D deficiency modulates the severity of the presentation of FHH ]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP224811.RAe_mlFiTdB0HUPppHHAM8y48xXBCLJSD0z0uaQ4AIIz8130_provenance.
- NP224811.RAe_mlFiTdB0HUPppHHAM8y48xXBCLJSD0z0uaQ4AIIz8130_assertion evidence source_evidence_literature NP224811.RAe_mlFiTdB0HUPppHHAM8y48xXBCLJSD0z0uaQ4AIIz8130_provenance.
- NP224811.RAe_mlFiTdB0HUPppHHAM8y48xXBCLJSD0z0uaQ4AIIz8130_assertion SIO_000772 17473068 NP224811.RAe_mlFiTdB0HUPppHHAM8y48xXBCLJSD0z0uaQ4AIIz8130_provenance.
- NP224811.RAe_mlFiTdB0HUPppHHAM8y48xXBCLJSD0z0uaQ4AIIz8130_assertion wasDerivedFrom lhgdn-20090331 NP224811.RAe_mlFiTdB0HUPppHHAM8y48xXBCLJSD0z0uaQ4AIIz8130_provenance.
- NP224811.RAe_mlFiTdB0HUPppHHAM8y48xXBCLJSD0z0uaQ4AIIz8130_assertion wasGeneratedBy ECO_0000203 NP224811.RAe_mlFiTdB0HUPppHHAM8y48xXBCLJSD0z0uaQ4AIIz8130_provenance.