Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP505622.RAqNXatmM_4nffS17kWtVydo-6iZ6VAUgCLhjDV_soPGM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP505622.RAqNXatmM_4nffS17kWtVydo-6iZ6VAUgCLhjDV_soPGM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP505622.RAqNXatmM_4nffS17kWtVydo-6iZ6VAUgCLhjDV_soPGM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP505622.RAqNXatmM_4nffS17kWtVydo-6iZ6VAUgCLhjDV_soPGM130_provenance.
- NP505622.RAqNXatmM_4nffS17kWtVydo-6iZ6VAUgCLhjDV_soPGM130_assertion description "[Prior to the recent characterization of the enzymatic defect and identification of the involved gene, the histopathology of X-linked dominant chondrodysplasia punctata (Conradi-H�nermann-Happle syndrome or CDPX2) has been described under various names including calcinosis universalis, chondrodystrophia calcificans congenita, Conradi disease, and Conradi-H�nermann syndrome.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP505622.RAqNXatmM_4nffS17kWtVydo-6iZ6VAUgCLhjDV_soPGM130_provenance.
- NP505622.RAqNXatmM_4nffS17kWtVydo-6iZ6VAUgCLhjDV_soPGM130_assertion evidence source_evidence_literature NP505622.RAqNXatmM_4nffS17kWtVydo-6iZ6VAUgCLhjDV_soPGM130_provenance.
- NP505622.RAqNXatmM_4nffS17kWtVydo-6iZ6VAUgCLhjDV_soPGM130_assertion SIO_000772 14726822 NP505622.RAqNXatmM_4nffS17kWtVydo-6iZ6VAUgCLhjDV_soPGM130_provenance.
- NP505622.RAqNXatmM_4nffS17kWtVydo-6iZ6VAUgCLhjDV_soPGM130_assertion wasDerivedFrom befree-20140225 NP505622.RAqNXatmM_4nffS17kWtVydo-6iZ6VAUgCLhjDV_soPGM130_provenance.
- NP505622.RAqNXatmM_4nffS17kWtVydo-6iZ6VAUgCLhjDV_soPGM130_assertion wasGeneratedBy ECO_0000203 NP505622.RAqNXatmM_4nffS17kWtVydo-6iZ6VAUgCLhjDV_soPGM130_provenance.
- befree-20140225 importedOn "2014-02-25" NP505622.RAqNXatmM_4nffS17kWtVydo-6iZ6VAUgCLhjDV_soPGM130_provenance.