Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP161206.RAsMUMDutXjxGPRqqw5Px3N6a30A7SFJCm2U9ynlh9vXU#assertion> ?p ?o ?g. }
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- 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." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 17473068 provenance.
- assertion wasDerivedFrom LHGDN provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.