Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP935282.RAjau2OjPcMTwHlVPDOchydd5DG9s_kTTO1tIcQB3f4VE130_assertion> ?p ?o ?g. }
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- NP935282.RAjau2OjPcMTwHlVPDOchydd5DG9s_kTTO1tIcQB3f4VE130_assertion type Assertion NP935282.RAjau2OjPcMTwHlVPDOchydd5DG9s_kTTO1tIcQB3f4VE130_head.
- NP935282.RAjau2OjPcMTwHlVPDOchydd5DG9s_kTTO1tIcQB3f4VE130_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." NP935282.RAjau2OjPcMTwHlVPDOchydd5DG9s_kTTO1tIcQB3f4VE130_provenance.
- NP935282.RAjau2OjPcMTwHlVPDOchydd5DG9s_kTTO1tIcQB3f4VE130_assertion evidence source_evidence_literature NP935282.RAjau2OjPcMTwHlVPDOchydd5DG9s_kTTO1tIcQB3f4VE130_provenance.
- NP935282.RAjau2OjPcMTwHlVPDOchydd5DG9s_kTTO1tIcQB3f4VE130_assertion SIO_000772 16650080 NP935282.RAjau2OjPcMTwHlVPDOchydd5DG9s_kTTO1tIcQB3f4VE130_provenance.
- NP935282.RAjau2OjPcMTwHlVPDOchydd5DG9s_kTTO1tIcQB3f4VE130_assertion wasDerivedFrom befree-20140225 NP935282.RAjau2OjPcMTwHlVPDOchydd5DG9s_kTTO1tIcQB3f4VE130_provenance.
- NP935282.RAjau2OjPcMTwHlVPDOchydd5DG9s_kTTO1tIcQB3f4VE130_assertion wasGeneratedBy ECO_0000203 NP935282.RAjau2OjPcMTwHlVPDOchydd5DG9s_kTTO1tIcQB3f4VE130_provenance.