Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP510398.RANsTt5I_eZ9IPTUYHu1mRnz_klu3FYm66hLCno3VivY4130_assertion> ?p ?o ?g. }
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- NP510398.RANsTt5I_eZ9IPTUYHu1mRnz_klu3FYm66hLCno3VivY4130_assertion type Assertion NP510398.RANsTt5I_eZ9IPTUYHu1mRnz_klu3FYm66hLCno3VivY4130_head.
- NP510398.RANsTt5I_eZ9IPTUYHu1mRnz_klu3FYm66hLCno3VivY4130_assertion description "[Mutations in the L1CAM gene cause neurological abnormalities of variable severity, including congenital hydrocephalus, agenesis of the corpus callosum, spastic paraplegia, bilaterally adducted thumbs, aphasia, and mental retardation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP510398.RANsTt5I_eZ9IPTUYHu1mRnz_klu3FYm66hLCno3VivY4130_provenance.
- NP510398.RANsTt5I_eZ9IPTUYHu1mRnz_klu3FYm66hLCno3VivY4130_assertion evidence source_evidence_literature NP510398.RANsTt5I_eZ9IPTUYHu1mRnz_klu3FYm66hLCno3VivY4130_provenance.
- NP510398.RANsTt5I_eZ9IPTUYHu1mRnz_klu3FYm66hLCno3VivY4130_assertion SIO_000772 16650080 NP510398.RANsTt5I_eZ9IPTUYHu1mRnz_klu3FYm66hLCno3VivY4130_provenance.
- NP510398.RANsTt5I_eZ9IPTUYHu1mRnz_klu3FYm66hLCno3VivY4130_assertion wasDerivedFrom befree-20140225 NP510398.RANsTt5I_eZ9IPTUYHu1mRnz_klu3FYm66hLCno3VivY4130_provenance.
- NP510398.RANsTt5I_eZ9IPTUYHu1mRnz_klu3FYm66hLCno3VivY4130_assertion wasGeneratedBy ECO_0000203 NP510398.RANsTt5I_eZ9IPTUYHu1mRnz_klu3FYm66hLCno3VivY4130_provenance.