Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP152331.RArUxbBWrC1ygYJk51C1gf4XNzt0a4Tdv8umRx_ORPqZ4130_assertion> ?p ?o ?g. }
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- NP152331.RArUxbBWrC1ygYJk51C1gf4XNzt0a4Tdv8umRx_ORPqZ4130_assertion type Assertion NP152331.RArUxbBWrC1ygYJk51C1gf4XNzt0a4Tdv8umRx_ORPqZ4130_head.
- NP152331.RArUxbBWrC1ygYJk51C1gf4XNzt0a4Tdv8umRx_ORPqZ4130_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." NP152331.RArUxbBWrC1ygYJk51C1gf4XNzt0a4Tdv8umRx_ORPqZ4130_provenance.
- NP152331.RArUxbBWrC1ygYJk51C1gf4XNzt0a4Tdv8umRx_ORPqZ4130_assertion evidence source_evidence_literature NP152331.RArUxbBWrC1ygYJk51C1gf4XNzt0a4Tdv8umRx_ORPqZ4130_provenance.
- NP152331.RArUxbBWrC1ygYJk51C1gf4XNzt0a4Tdv8umRx_ORPqZ4130_assertion SIO_000772 17473068 NP152331.RArUxbBWrC1ygYJk51C1gf4XNzt0a4Tdv8umRx_ORPqZ4130_provenance.
- NP152331.RArUxbBWrC1ygYJk51C1gf4XNzt0a4Tdv8umRx_ORPqZ4130_assertion wasDerivedFrom lhgdn-20090331 NP152331.RArUxbBWrC1ygYJk51C1gf4XNzt0a4Tdv8umRx_ORPqZ4130_provenance.
- NP152331.RArUxbBWrC1ygYJk51C1gf4XNzt0a4Tdv8umRx_ORPqZ4130_assertion wasGeneratedBy ECO_0000203 NP152331.RArUxbBWrC1ygYJk51C1gf4XNzt0a4Tdv8umRx_ORPqZ4130_provenance.