Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP604431.RAJZgqfDC8EBxp4yMUXvVJE3XyeNr-F1HKhzzi5kIjyRQ130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP604431.RAJZgqfDC8EBxp4yMUXvVJE3XyeNr-F1HKhzzi5kIjyRQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP604431.RAJZgqfDC8EBxp4yMUXvVJE3XyeNr-F1HKhzzi5kIjyRQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP604431.RAJZgqfDC8EBxp4yMUXvVJE3XyeNr-F1HKhzzi5kIjyRQ130_provenance.
- befree-2016 importedOn "2016-02-19" NP604431.RAJZgqfDC8EBxp4yMUXvVJE3XyeNr-F1HKhzzi5kIjyRQ130_provenance.
- NP604431.RAJZgqfDC8EBxp4yMUXvVJE3XyeNr-F1HKhzzi5kIjyRQ130_assertion wasGeneratedBy ECO_0000203 NP604431.RAJZgqfDC8EBxp4yMUXvVJE3XyeNr-F1HKhzzi5kIjyRQ130_provenance.
- NP604431.RAJZgqfDC8EBxp4yMUXvVJE3XyeNr-F1HKhzzi5kIjyRQ130_assertion wasDerivedFrom befree-2016 NP604431.RAJZgqfDC8EBxp4yMUXvVJE3XyeNr-F1HKhzzi5kIjyRQ130_provenance.
- NP604431.RAJZgqfDC8EBxp4yMUXvVJE3XyeNr-F1HKhzzi5kIjyRQ130_assertion SIO_000772 17431882 NP604431.RAJZgqfDC8EBxp4yMUXvVJE3XyeNr-F1HKhzzi5kIjyRQ130_provenance.
- NP604431.RAJZgqfDC8EBxp4yMUXvVJE3XyeNr-F1HKhzzi5kIjyRQ130_assertion evidence source_evidence_literature NP604431.RAJZgqfDC8EBxp4yMUXvVJE3XyeNr-F1HKhzzi5kIjyRQ130_provenance.
- NP604431.RAJZgqfDC8EBxp4yMUXvVJE3XyeNr-F1HKhzzi5kIjyRQ130_assertion description "[Mutations in the immunoglobulin micro-binding protein gene (IGHMBP2) lead to SMARD1, but clinical criteria that delineate SMARD1 from other SMARD syndromes are not well established.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP604431.RAJZgqfDC8EBxp4yMUXvVJE3XyeNr-F1HKhzzi5kIjyRQ130_provenance.