Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP153563.RAItoWPonZTI28Je1OEIsQnf9nVjiK45ygsGqj4k5hVpE130_assertion> ?p ?o ?g. }
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- NP153563.RAItoWPonZTI28Je1OEIsQnf9nVjiK45ygsGqj4k5hVpE130_assertion type Assertion NP153563.RAItoWPonZTI28Je1OEIsQnf9nVjiK45ygsGqj4k5hVpE130_head.
- NP153563.RAItoWPonZTI28Je1OEIsQnf9nVjiK45ygsGqj4k5hVpE130_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." NP153563.RAItoWPonZTI28Je1OEIsQnf9nVjiK45ygsGqj4k5hVpE130_provenance.
- NP153563.RAItoWPonZTI28Je1OEIsQnf9nVjiK45ygsGqj4k5hVpE130_assertion evidence source_evidence_literature NP153563.RAItoWPonZTI28Je1OEIsQnf9nVjiK45ygsGqj4k5hVpE130_provenance.
- NP153563.RAItoWPonZTI28Je1OEIsQnf9nVjiK45ygsGqj4k5hVpE130_assertion SIO_000772 18829051 NP153563.RAItoWPonZTI28Je1OEIsQnf9nVjiK45ygsGqj4k5hVpE130_provenance.
- NP153563.RAItoWPonZTI28Je1OEIsQnf9nVjiK45ygsGqj4k5hVpE130_assertion wasDerivedFrom lhgdn-20090331 NP153563.RAItoWPonZTI28Je1OEIsQnf9nVjiK45ygsGqj4k5hVpE130_provenance.
- NP153563.RAItoWPonZTI28Je1OEIsQnf9nVjiK45ygsGqj4k5hVpE130_assertion wasGeneratedBy ECO_0000203 NP153563.RAItoWPonZTI28Je1OEIsQnf9nVjiK45ygsGqj4k5hVpE130_provenance.