Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP242468.RAZbTegsGFE1yYneG_mAOwATXJRpjWgWLZgjOYDfHGhqE130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP242468.RAZbTegsGFE1yYneG_mAOwATXJRpjWgWLZgjOYDfHGhqE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP242468.RAZbTegsGFE1yYneG_mAOwATXJRpjWgWLZgjOYDfHGhqE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP242468.RAZbTegsGFE1yYneG_mAOwATXJRpjWgWLZgjOYDfHGhqE130_provenance.
- NP242468.RAZbTegsGFE1yYneG_mAOwATXJRpjWgWLZgjOYDfHGhqE130_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." NP242468.RAZbTegsGFE1yYneG_mAOwATXJRpjWgWLZgjOYDfHGhqE130_provenance.
- NP242468.RAZbTegsGFE1yYneG_mAOwATXJRpjWgWLZgjOYDfHGhqE130_assertion evidence source_evidence_literature NP242468.RAZbTegsGFE1yYneG_mAOwATXJRpjWgWLZgjOYDfHGhqE130_provenance.
- NP242468.RAZbTegsGFE1yYneG_mAOwATXJRpjWgWLZgjOYDfHGhqE130_assertion SIO_000772 18829051 NP242468.RAZbTegsGFE1yYneG_mAOwATXJRpjWgWLZgjOYDfHGhqE130_provenance.
- NP242468.RAZbTegsGFE1yYneG_mAOwATXJRpjWgWLZgjOYDfHGhqE130_assertion wasDerivedFrom lhgdn-20090331 NP242468.RAZbTegsGFE1yYneG_mAOwATXJRpjWgWLZgjOYDfHGhqE130_provenance.
- NP242468.RAZbTegsGFE1yYneG_mAOwATXJRpjWgWLZgjOYDfHGhqE130_assertion wasGeneratedBy ECO_0000203 NP242468.RAZbTegsGFE1yYneG_mAOwATXJRpjWgWLZgjOYDfHGhqE130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP242468.RAZbTegsGFE1yYneG_mAOwATXJRpjWgWLZgjOYDfHGhqE130_provenance.