Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1361258.RANfUaTsGSq7xVEgQnQd8GyAwGRtsUEpFLEaQkA9iU-F4#assertion> ?p ?o ?g. }
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- 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." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 18829051 provenance.
- assertion wasDerivedFrom LHGDN provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.