Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP463494.RADv5geRivhlPfh8rSYJCGCfL6oJKSLGbbR546FNjxixc130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP463494.RADv5geRivhlPfh8rSYJCGCfL6oJKSLGbbR546FNjxixc130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP463494.RADv5geRivhlPfh8rSYJCGCfL6oJKSLGbbR546FNjxixc130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP463494.RADv5geRivhlPfh8rSYJCGCfL6oJKSLGbbR546FNjxixc130_provenance.
- NP463494.RADv5geRivhlPfh8rSYJCGCfL6oJKSLGbbR546FNjxixc130_assertion description "[We have identified and functionally characterized a novel, homozygous, missense mutation (S427L) in NBCe1, also resulting in pRTA and similar eye defects without mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP463494.RADv5geRivhlPfh8rSYJCGCfL6oJKSLGbbR546FNjxixc130_provenance.
- NP463494.RADv5geRivhlPfh8rSYJCGCfL6oJKSLGbbR546FNjxixc130_assertion evidence source_evidence_literature NP463494.RADv5geRivhlPfh8rSYJCGCfL6oJKSLGbbR546FNjxixc130_provenance.
- NP463494.RADv5geRivhlPfh8rSYJCGCfL6oJKSLGbbR546FNjxixc130_assertion SIO_000772 15471865 NP463494.RADv5geRivhlPfh8rSYJCGCfL6oJKSLGbbR546FNjxixc130_provenance.
- NP463494.RADv5geRivhlPfh8rSYJCGCfL6oJKSLGbbR546FNjxixc130_assertion wasDerivedFrom befree-2016 NP463494.RADv5geRivhlPfh8rSYJCGCfL6oJKSLGbbR546FNjxixc130_provenance.
- NP463494.RADv5geRivhlPfh8rSYJCGCfL6oJKSLGbbR546FNjxixc130_assertion wasGeneratedBy ECO_0000203 NP463494.RADv5geRivhlPfh8rSYJCGCfL6oJKSLGbbR546FNjxixc130_provenance.
- befree-2016 importedOn "2016-02-19" NP463494.RADv5geRivhlPfh8rSYJCGCfL6oJKSLGbbR546FNjxixc130_provenance.