Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP215443.RAxgzLPp6Ovu-4sdNmcvvQCezTnE3IXJyDwVyjTIsAU48130_assertion> ?p ?o ?g. }
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- NP215443.RAxgzLPp6Ovu-4sdNmcvvQCezTnE3IXJyDwVyjTIsAU48130_assertion type Assertion NP215443.RAxgzLPp6Ovu-4sdNmcvvQCezTnE3IXJyDwVyjTIsAU48130_head.
- NP215443.RAxgzLPp6Ovu-4sdNmcvvQCezTnE3IXJyDwVyjTIsAU48130_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." NP215443.RAxgzLPp6Ovu-4sdNmcvvQCezTnE3IXJyDwVyjTIsAU48130_provenance.
- NP215443.RAxgzLPp6Ovu-4sdNmcvvQCezTnE3IXJyDwVyjTIsAU48130_assertion evidence source_evidence_literature NP215443.RAxgzLPp6Ovu-4sdNmcvvQCezTnE3IXJyDwVyjTIsAU48130_provenance.
- NP215443.RAxgzLPp6Ovu-4sdNmcvvQCezTnE3IXJyDwVyjTIsAU48130_assertion SIO_000772 17473068 NP215443.RAxgzLPp6Ovu-4sdNmcvvQCezTnE3IXJyDwVyjTIsAU48130_provenance.
- NP215443.RAxgzLPp6Ovu-4sdNmcvvQCezTnE3IXJyDwVyjTIsAU48130_assertion wasDerivedFrom lhgdn-20090331 NP215443.RAxgzLPp6Ovu-4sdNmcvvQCezTnE3IXJyDwVyjTIsAU48130_provenance.
- NP215443.RAxgzLPp6Ovu-4sdNmcvvQCezTnE3IXJyDwVyjTIsAU48130_assertion wasGeneratedBy ECO_0000203 NP215443.RAxgzLPp6Ovu-4sdNmcvvQCezTnE3IXJyDwVyjTIsAU48130_provenance.