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- source_evidence_literature type ECO_0000212 NP1266018.RAuXcaN8eEMACo6DUJ_sWLlXO0nS-1FAOqhJggrYbIZt8130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1266018.RAuXcaN8eEMACo6DUJ_sWLlXO0nS-1FAOqhJggrYbIZt8130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1266018.RAuXcaN8eEMACo6DUJ_sWLlXO0nS-1FAOqhJggrYbIZt8130_provenance.
- NP1266018.RAuXcaN8eEMACo6DUJ_sWLlXO0nS-1FAOqhJggrYbIZt8130_assertion description "[We have identified a DCPS pathogenic mutation in a large family with three affected individuals presenting with a novel recessive syndrome consisting of craniofacial anomalies, intellectual disability and neuromuscular defects.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1266018.RAuXcaN8eEMACo6DUJ_sWLlXO0nS-1FAOqhJggrYbIZt8130_provenance.
- NP1266018.RAuXcaN8eEMACo6DUJ_sWLlXO0nS-1FAOqhJggrYbIZt8130_assertion evidence source_evidence_literature NP1266018.RAuXcaN8eEMACo6DUJ_sWLlXO0nS-1FAOqhJggrYbIZt8130_provenance.
- NP1266018.RAuXcaN8eEMACo6DUJ_sWLlXO0nS-1FAOqhJggrYbIZt8130_assertion SIO_000772 25712129 NP1266018.RAuXcaN8eEMACo6DUJ_sWLlXO0nS-1FAOqhJggrYbIZt8130_provenance.
- NP1266018.RAuXcaN8eEMACo6DUJ_sWLlXO0nS-1FAOqhJggrYbIZt8130_assertion wasDerivedFrom befree-2016 NP1266018.RAuXcaN8eEMACo6DUJ_sWLlXO0nS-1FAOqhJggrYbIZt8130_provenance.
- NP1266018.RAuXcaN8eEMACo6DUJ_sWLlXO0nS-1FAOqhJggrYbIZt8130_assertion wasGeneratedBy ECO_0000203 NP1266018.RAuXcaN8eEMACo6DUJ_sWLlXO0nS-1FAOqhJggrYbIZt8130_provenance.
- befree-2016 importedOn "2016-02-19" NP1266018.RAuXcaN8eEMACo6DUJ_sWLlXO0nS-1FAOqhJggrYbIZt8130_provenance.