Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1242051.RAN1vVIdLNMN11lSD4gOJqEQJR8DeTqyXBmYLMipnZKQ4130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1242051.RAN1vVIdLNMN11lSD4gOJqEQJR8DeTqyXBmYLMipnZKQ4130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1242051.RAN1vVIdLNMN11lSD4gOJqEQJR8DeTqyXBmYLMipnZKQ4130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1242051.RAN1vVIdLNMN11lSD4gOJqEQJR8DeTqyXBmYLMipnZKQ4130_provenance.
- NP1242051.RAN1vVIdLNMN11lSD4gOJqEQJR8DeTqyXBmYLMipnZKQ4130_assertion description "[Loss-of-function mutations of CYP24A1, the enzyme that converts the major circulating and active forms of vitamin D to inactive metabolites, recently have been implicated in idiopathic infantile hypercalcemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1242051.RAN1vVIdLNMN11lSD4gOJqEQJR8DeTqyXBmYLMipnZKQ4130_provenance.
- NP1242051.RAN1vVIdLNMN11lSD4gOJqEQJR8DeTqyXBmYLMipnZKQ4130_assertion evidence source_evidence_literature NP1242051.RAN1vVIdLNMN11lSD4gOJqEQJR8DeTqyXBmYLMipnZKQ4130_provenance.
- NP1242051.RAN1vVIdLNMN11lSD4gOJqEQJR8DeTqyXBmYLMipnZKQ4130_assertion SIO_000772 25446019 NP1242051.RAN1vVIdLNMN11lSD4gOJqEQJR8DeTqyXBmYLMipnZKQ4130_provenance.
- NP1242051.RAN1vVIdLNMN11lSD4gOJqEQJR8DeTqyXBmYLMipnZKQ4130_assertion wasDerivedFrom befree-2016 NP1242051.RAN1vVIdLNMN11lSD4gOJqEQJR8DeTqyXBmYLMipnZKQ4130_provenance.
- NP1242051.RAN1vVIdLNMN11lSD4gOJqEQJR8DeTqyXBmYLMipnZKQ4130_assertion wasGeneratedBy ECO_0000203 NP1242051.RAN1vVIdLNMN11lSD4gOJqEQJR8DeTqyXBmYLMipnZKQ4130_provenance.
- befree-2016 importedOn "2016-02-19" NP1242051.RAN1vVIdLNMN11lSD4gOJqEQJR8DeTqyXBmYLMipnZKQ4130_provenance.