Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP216670.RAJBoom9v4OeARaZxR3j_x4fiB8dvUvHXTC2DNzSBllkY130_assertion> ?p ?o ?g. }
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- NP216670.RAJBoom9v4OeARaZxR3j_x4fiB8dvUvHXTC2DNzSBllkY130_assertion type Assertion NP216670.RAJBoom9v4OeARaZxR3j_x4fiB8dvUvHXTC2DNzSBllkY130_head.
- NP216670.RAJBoom9v4OeARaZxR3j_x4fiB8dvUvHXTC2DNzSBllkY130_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." NP216670.RAJBoom9v4OeARaZxR3j_x4fiB8dvUvHXTC2DNzSBllkY130_provenance.
- NP216670.RAJBoom9v4OeARaZxR3j_x4fiB8dvUvHXTC2DNzSBllkY130_assertion evidence source_evidence_literature NP216670.RAJBoom9v4OeARaZxR3j_x4fiB8dvUvHXTC2DNzSBllkY130_provenance.
- NP216670.RAJBoom9v4OeARaZxR3j_x4fiB8dvUvHXTC2DNzSBllkY130_assertion SIO_000772 18829051 NP216670.RAJBoom9v4OeARaZxR3j_x4fiB8dvUvHXTC2DNzSBllkY130_provenance.
- NP216670.RAJBoom9v4OeARaZxR3j_x4fiB8dvUvHXTC2DNzSBllkY130_assertion wasDerivedFrom lhgdn-20090331 NP216670.RAJBoom9v4OeARaZxR3j_x4fiB8dvUvHXTC2DNzSBllkY130_provenance.
- NP216670.RAJBoom9v4OeARaZxR3j_x4fiB8dvUvHXTC2DNzSBllkY130_assertion wasGeneratedBy ECO_0000203 NP216670.RAJBoom9v4OeARaZxR3j_x4fiB8dvUvHXTC2DNzSBllkY130_provenance.