Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP144317.RA2I10Q-nl9dQmCYHLm9K0vf_rfB5_jPYWJWbMwBUPD-g130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP144317.RA2I10Q-nl9dQmCYHLm9K0vf_rfB5_jPYWJWbMwBUPD-g130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP144317.RA2I10Q-nl9dQmCYHLm9K0vf_rfB5_jPYWJWbMwBUPD-g130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP144317.RA2I10Q-nl9dQmCYHLm9K0vf_rfB5_jPYWJWbMwBUPD-g130_provenance.
- NP144317.RA2I10Q-nl9dQmCYHLm9K0vf_rfB5_jPYWJWbMwBUPD-g130_assertion description "[This study found five novel homozygous ROBO3 mutations (four missense mutations and one base deletion) distributed throughout the extracellular domain of the gene in consanguineous families with horizontal gaze palsy and progressive scoliosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP144317.RA2I10Q-nl9dQmCYHLm9K0vf_rfB5_jPYWJWbMwBUPD-g130_provenance.
- NP144317.RA2I10Q-nl9dQmCYHLm9K0vf_rfB5_jPYWJWbMwBUPD-g130_assertion evidence source_evidence_literature NP144317.RA2I10Q-nl9dQmCYHLm9K0vf_rfB5_jPYWJWbMwBUPD-g130_provenance.
- NP144317.RA2I10Q-nl9dQmCYHLm9K0vf_rfB5_jPYWJWbMwBUPD-g130_assertion SIO_000772 18829051 NP144317.RA2I10Q-nl9dQmCYHLm9K0vf_rfB5_jPYWJWbMwBUPD-g130_provenance.
- NP144317.RA2I10Q-nl9dQmCYHLm9K0vf_rfB5_jPYWJWbMwBUPD-g130_assertion wasDerivedFrom lhgdn-20090331 NP144317.RA2I10Q-nl9dQmCYHLm9K0vf_rfB5_jPYWJWbMwBUPD-g130_provenance.
- NP144317.RA2I10Q-nl9dQmCYHLm9K0vf_rfB5_jPYWJWbMwBUPD-g130_assertion wasGeneratedBy ECO_0000203 NP144317.RA2I10Q-nl9dQmCYHLm9K0vf_rfB5_jPYWJWbMwBUPD-g130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP144317.RA2I10Q-nl9dQmCYHLm9K0vf_rfB5_jPYWJWbMwBUPD-g130_provenance.