Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP868051.RAEnW9m9GmGWe6EnmTzHJuuzcFtduUOXQxZCZJiUZoCoU130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP868051.RAEnW9m9GmGWe6EnmTzHJuuzcFtduUOXQxZCZJiUZoCoU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP868051.RAEnW9m9GmGWe6EnmTzHJuuzcFtduUOXQxZCZJiUZoCoU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP868051.RAEnW9m9GmGWe6EnmTzHJuuzcFtduUOXQxZCZJiUZoCoU130_provenance.
- NP868051.RAEnW9m9GmGWe6EnmTzHJuuzcFtduUOXQxZCZJiUZoCoU130_assertion description "[Mutations in the CYP2R1 gene, highly expressed in the testis and encoding vitamin D 25-hydroxylase, result in a vitamin D deficiency and a defective calcium homeostasis leading to rickets.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP868051.RAEnW9m9GmGWe6EnmTzHJuuzcFtduUOXQxZCZJiUZoCoU130_provenance.
- NP868051.RAEnW9m9GmGWe6EnmTzHJuuzcFtduUOXQxZCZJiUZoCoU130_assertion evidence source_evidence_literature NP868051.RAEnW9m9GmGWe6EnmTzHJuuzcFtduUOXQxZCZJiUZoCoU130_provenance.
- NP868051.RAEnW9m9GmGWe6EnmTzHJuuzcFtduUOXQxZCZJiUZoCoU130_assertion SIO_000772 21270327 NP868051.RAEnW9m9GmGWe6EnmTzHJuuzcFtduUOXQxZCZJiUZoCoU130_provenance.
- NP868051.RAEnW9m9GmGWe6EnmTzHJuuzcFtduUOXQxZCZJiUZoCoU130_assertion wasDerivedFrom befree-2016 NP868051.RAEnW9m9GmGWe6EnmTzHJuuzcFtduUOXQxZCZJiUZoCoU130_provenance.
- NP868051.RAEnW9m9GmGWe6EnmTzHJuuzcFtduUOXQxZCZJiUZoCoU130_assertion wasGeneratedBy ECO_0000203 NP868051.RAEnW9m9GmGWe6EnmTzHJuuzcFtduUOXQxZCZJiUZoCoU130_provenance.
- befree-2016 importedOn "2016-02-19" NP868051.RAEnW9m9GmGWe6EnmTzHJuuzcFtduUOXQxZCZJiUZoCoU130_provenance.