Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP733330.RAGSRo256QOFHeHUIlWJAWvZpjoCemspo8A7dVyHnciX4130_assertion> ?p ?o ?g. }
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- NP733330.RAGSRo256QOFHeHUIlWJAWvZpjoCemspo8A7dVyHnciX4130_assertion type Assertion NP733330.RAGSRo256QOFHeHUIlWJAWvZpjoCemspo8A7dVyHnciX4130_head.
- NP733330.RAGSRo256QOFHeHUIlWJAWvZpjoCemspo8A7dVyHnciX4130_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." NP733330.RAGSRo256QOFHeHUIlWJAWvZpjoCemspo8A7dVyHnciX4130_provenance.
- NP733330.RAGSRo256QOFHeHUIlWJAWvZpjoCemspo8A7dVyHnciX4130_assertion evidence source_evidence_literature NP733330.RAGSRo256QOFHeHUIlWJAWvZpjoCemspo8A7dVyHnciX4130_provenance.
- NP733330.RAGSRo256QOFHeHUIlWJAWvZpjoCemspo8A7dVyHnciX4130_assertion SIO_000772 19378506 NP733330.RAGSRo256QOFHeHUIlWJAWvZpjoCemspo8A7dVyHnciX4130_provenance.
- NP733330.RAGSRo256QOFHeHUIlWJAWvZpjoCemspo8A7dVyHnciX4130_assertion wasDerivedFrom befree-2016 NP733330.RAGSRo256QOFHeHUIlWJAWvZpjoCemspo8A7dVyHnciX4130_provenance.
- NP733330.RAGSRo256QOFHeHUIlWJAWvZpjoCemspo8A7dVyHnciX4130_assertion wasGeneratedBy ECO_0000203 NP733330.RAGSRo256QOFHeHUIlWJAWvZpjoCemspo8A7dVyHnciX4130_provenance.