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- source_evidence_literature type ECO_0000212 NP719717.RAMPePTARpHEAP2JVnv9jjZg5EljC9_cquzAJfMeNveWw130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP719717.RAMPePTARpHEAP2JVnv9jjZg5EljC9_cquzAJfMeNveWw130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP719717.RAMPePTARpHEAP2JVnv9jjZg5EljC9_cquzAJfMeNveWw130_provenance.
- NP719717.RAMPePTARpHEAP2JVnv9jjZg5EljC9_cquzAJfMeNveWw130_assertion wasGeneratedBy ECO_0000203 NP719717.RAMPePTARpHEAP2JVnv9jjZg5EljC9_cquzAJfMeNveWw130_provenance.
- NP719717.RAMPePTARpHEAP2JVnv9jjZg5EljC9_cquzAJfMeNveWw130_assertion wasDerivedFrom befree-20140225 NP719717.RAMPePTARpHEAP2JVnv9jjZg5EljC9_cquzAJfMeNveWw130_provenance.
- NP719717.RAMPePTARpHEAP2JVnv9jjZg5EljC9_cquzAJfMeNveWw130_assertion SIO_000772 17216245 NP719717.RAMPePTARpHEAP2JVnv9jjZg5EljC9_cquzAJfMeNveWw130_provenance.
- NP719717.RAMPePTARpHEAP2JVnv9jjZg5EljC9_cquzAJfMeNveWw130_assertion evidence source_evidence_literature NP719717.RAMPePTARpHEAP2JVnv9jjZg5EljC9_cquzAJfMeNveWw130_provenance.
- NP719717.RAMPePTARpHEAP2JVnv9jjZg5EljC9_cquzAJfMeNveWw130_assertion description "[Lack of NPHP2 mutations in a newborn infant with Joubert syndrome-related disorder presenting as end-stage renal disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP719717.RAMPePTARpHEAP2JVnv9jjZg5EljC9_cquzAJfMeNveWw130_provenance.
- befree-20140225 importedOn "2014-02-25" NP719717.RAMPePTARpHEAP2JVnv9jjZg5EljC9_cquzAJfMeNveWw130_provenance.