Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP768491.RAb9xrShhTltmCCq3sTNGZu6UTVA_ADd21TzSncb8N-kI130_assertion> ?p ?o ?g. }
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- NP768491.RAb9xrShhTltmCCq3sTNGZu6UTVA_ADd21TzSncb8N-kI130_assertion type Assertion NP768491.RAb9xrShhTltmCCq3sTNGZu6UTVA_ADd21TzSncb8N-kI130_head.
- NP768491.RAb9xrShhTltmCCq3sTNGZu6UTVA_ADd21TzSncb8N-kI130_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." NP768491.RAb9xrShhTltmCCq3sTNGZu6UTVA_ADd21TzSncb8N-kI130_provenance.
- NP768491.RAb9xrShhTltmCCq3sTNGZu6UTVA_ADd21TzSncb8N-kI130_assertion evidence source_evidence_literature NP768491.RAb9xrShhTltmCCq3sTNGZu6UTVA_ADd21TzSncb8N-kI130_provenance.
- NP768491.RAb9xrShhTltmCCq3sTNGZu6UTVA_ADd21TzSncb8N-kI130_assertion SIO_000772 17294222 NP768491.RAb9xrShhTltmCCq3sTNGZu6UTVA_ADd21TzSncb8N-kI130_provenance.
- NP768491.RAb9xrShhTltmCCq3sTNGZu6UTVA_ADd21TzSncb8N-kI130_assertion wasDerivedFrom befree-20150227 NP768491.RAb9xrShhTltmCCq3sTNGZu6UTVA_ADd21TzSncb8N-kI130_provenance.
- NP768491.RAb9xrShhTltmCCq3sTNGZu6UTVA_ADd21TzSncb8N-kI130_assertion wasGeneratedBy ECO_0000203 NP768491.RAb9xrShhTltmCCq3sTNGZu6UTVA_ADd21TzSncb8N-kI130_provenance.