Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP787000.RATSlJfjcoi9yFb9XFnCVMCP4QSphfretJYnIOe9qfhkg130_assertion> ?p ?o ?g. }
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- NP787000.RATSlJfjcoi9yFb9XFnCVMCP4QSphfretJYnIOe9qfhkg130_assertion type Assertion NP787000.RATSlJfjcoi9yFb9XFnCVMCP4QSphfretJYnIOe9qfhkg130_head.
- NP787000.RATSlJfjcoi9yFb9XFnCVMCP4QSphfretJYnIOe9qfhkg130_assertion description "[Spinal muscular atrophy (SMA), the leading genetic cause of death in childhood, is an autosomal recessive neuromuscular disorder characterized by progressive muscle weakness, associated with deletions of the survival motor neuron (SMN) gene identified and mapped to chromosome 5q13.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP787000.RATSlJfjcoi9yFb9XFnCVMCP4QSphfretJYnIOe9qfhkg130_provenance.
- NP787000.RATSlJfjcoi9yFb9XFnCVMCP4QSphfretJYnIOe9qfhkg130_assertion evidence source_evidence_literature NP787000.RATSlJfjcoi9yFb9XFnCVMCP4QSphfretJYnIOe9qfhkg130_provenance.
- NP787000.RATSlJfjcoi9yFb9XFnCVMCP4QSphfretJYnIOe9qfhkg130_assertion SIO_000772 19378506 NP787000.RATSlJfjcoi9yFb9XFnCVMCP4QSphfretJYnIOe9qfhkg130_provenance.
- NP787000.RATSlJfjcoi9yFb9XFnCVMCP4QSphfretJYnIOe9qfhkg130_assertion wasDerivedFrom befree-20140225 NP787000.RATSlJfjcoi9yFb9XFnCVMCP4QSphfretJYnIOe9qfhkg130_provenance.
- NP787000.RATSlJfjcoi9yFb9XFnCVMCP4QSphfretJYnIOe9qfhkg130_assertion wasGeneratedBy ECO_0000203 NP787000.RATSlJfjcoi9yFb9XFnCVMCP4QSphfretJYnIOe9qfhkg130_provenance.