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- source_evidence_literature type ECO_0000212 NP707732.RAgGusx_EH57xo8T9ZPxgKc4ZEzBZ-f6heYiwzF6aXEoQ130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP707732.RAgGusx_EH57xo8T9ZPxgKc4ZEzBZ-f6heYiwzF6aXEoQ130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP707732.RAgGusx_EH57xo8T9ZPxgKc4ZEzBZ-f6heYiwzF6aXEoQ130_provenance.
- NP707732.RAgGusx_EH57xo8T9ZPxgKc4ZEzBZ-f6heYiwzF6aXEoQ130_assertion description "[The SOS1 E433K mutation, identified in a patient diagnosed with CFC, has previously been reported in patients with NS.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP707732.RAgGusx_EH57xo8T9ZPxgKc4ZEzBZ-f6heYiwzF6aXEoQ130_provenance.
- NP707732.RAgGusx_EH57xo8T9ZPxgKc4ZEzBZ-f6heYiwzF6aXEoQ130_assertion evidence source_evidence_literature NP707732.RAgGusx_EH57xo8T9ZPxgKc4ZEzBZ-f6heYiwzF6aXEoQ130_provenance.
- NP707732.RAgGusx_EH57xo8T9ZPxgKc4ZEzBZ-f6heYiwzF6aXEoQ130_assertion SIO_000772 18456719 NP707732.RAgGusx_EH57xo8T9ZPxgKc4ZEzBZ-f6heYiwzF6aXEoQ130_provenance.
- NP707732.RAgGusx_EH57xo8T9ZPxgKc4ZEzBZ-f6heYiwzF6aXEoQ130_assertion wasDerivedFrom befree-20150227 NP707732.RAgGusx_EH57xo8T9ZPxgKc4ZEzBZ-f6heYiwzF6aXEoQ130_provenance.
- NP707732.RAgGusx_EH57xo8T9ZPxgKc4ZEzBZ-f6heYiwzF6aXEoQ130_assertion wasGeneratedBy ECO_0000203 NP707732.RAgGusx_EH57xo8T9ZPxgKc4ZEzBZ-f6heYiwzF6aXEoQ130_provenance.
- befree-20150227 importedOn "2015-02-27" NP707732.RAgGusx_EH57xo8T9ZPxgKc4ZEzBZ-f6heYiwzF6aXEoQ130_provenance.