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- source_evidence_literature type ECO_0000212 NP190142.RAX6M1Cq9E8d0FZ5MceCgfzakr_gOY4Gmd0n21x77xmL8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP190142.RAX6M1Cq9E8d0FZ5MceCgfzakr_gOY4Gmd0n21x77xmL8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP190142.RAX6M1Cq9E8d0FZ5MceCgfzakr_gOY4Gmd0n21x77xmL8130_provenance.
- NP190142.RAX6M1Cq9E8d0FZ5MceCgfzakr_gOY4Gmd0n21x77xmL8130_assertion description "[Two of the new mutations result in changes in amino acids altered in previously described pedigrees with germ line ATRX mutations (ATR-X syndrome), but the hematologic abnormalities were much more severe in the patients with ATMDS than in the corresponding constitutional cases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP190142.RAX6M1Cq9E8d0FZ5MceCgfzakr_gOY4Gmd0n21x77xmL8130_provenance.
- NP190142.RAX6M1Cq9E8d0FZ5MceCgfzakr_gOY4Gmd0n21x77xmL8130_assertion evidence source_evidence_literature NP190142.RAX6M1Cq9E8d0FZ5MceCgfzakr_gOY4Gmd0n21x77xmL8130_provenance.
- NP190142.RAX6M1Cq9E8d0FZ5MceCgfzakr_gOY4Gmd0n21x77xmL8130_assertion SIO_000772 14592816 NP190142.RAX6M1Cq9E8d0FZ5MceCgfzakr_gOY4Gmd0n21x77xmL8130_provenance.
- NP190142.RAX6M1Cq9E8d0FZ5MceCgfzakr_gOY4Gmd0n21x77xmL8130_assertion wasDerivedFrom befree-20140225 NP190142.RAX6M1Cq9E8d0FZ5MceCgfzakr_gOY4Gmd0n21x77xmL8130_provenance.
- NP190142.RAX6M1Cq9E8d0FZ5MceCgfzakr_gOY4Gmd0n21x77xmL8130_assertion wasGeneratedBy ECO_0000203 NP190142.RAX6M1Cq9E8d0FZ5MceCgfzakr_gOY4Gmd0n21x77xmL8130_provenance.
- befree-20140225 importedOn "2014-02-25" NP190142.RAX6M1Cq9E8d0FZ5MceCgfzakr_gOY4Gmd0n21x77xmL8130_provenance.