Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP593337.RAaV9qORfxk7KkX766wZiaDL1yJN6yKM4KqfC0PbB0Cyk130_assertion> ?p ?o ?g. }
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- NP593337.RAaV9qORfxk7KkX766wZiaDL1yJN6yKM4KqfC0PbB0Cyk130_assertion type Assertion NP593337.RAaV9qORfxk7KkX766wZiaDL1yJN6yKM4KqfC0PbB0Cyk130_head.
- NP593337.RAaV9qORfxk7KkX766wZiaDL1yJN6yKM4KqfC0PbB0Cyk130_assertion description "[Mutations in the X-chromosomal gene (L1CAM) for cell adhesion molecule L1 are associated with a heterogeneous group of conditions that include agenesis of the corpus callosum, hydrocephalus, spastic paraplegia, adducted thumbs and mental retardation (L1-spectrum disease, CRASH or MASA syndrome).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP593337.RAaV9qORfxk7KkX766wZiaDL1yJN6yKM4KqfC0PbB0Cyk130_provenance.
- NP593337.RAaV9qORfxk7KkX766wZiaDL1yJN6yKM4KqfC0PbB0Cyk130_assertion evidence source_evidence_literature NP593337.RAaV9qORfxk7KkX766wZiaDL1yJN6yKM4KqfC0PbB0Cyk130_provenance.
- NP593337.RAaV9qORfxk7KkX766wZiaDL1yJN6yKM4KqfC0PbB0Cyk130_assertion SIO_000772 17294222 NP593337.RAaV9qORfxk7KkX766wZiaDL1yJN6yKM4KqfC0PbB0Cyk130_provenance.
- NP593337.RAaV9qORfxk7KkX766wZiaDL1yJN6yKM4KqfC0PbB0Cyk130_assertion wasDerivedFrom befree-2016 NP593337.RAaV9qORfxk7KkX766wZiaDL1yJN6yKM4KqfC0PbB0Cyk130_provenance.
- NP593337.RAaV9qORfxk7KkX766wZiaDL1yJN6yKM4KqfC0PbB0Cyk130_assertion wasGeneratedBy ECO_0000203 NP593337.RAaV9qORfxk7KkX766wZiaDL1yJN6yKM4KqfC0PbB0Cyk130_provenance.