Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP703548.RAbTl4rIkSZ-p-BFub1Kz4o8xpuHZhLsOlSMXRgED-ILU130_assertion> ?p ?o ?g. }
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- NP703548.RAbTl4rIkSZ-p-BFub1Kz4o8xpuHZhLsOlSMXRgED-ILU130_assertion type Assertion NP703548.RAbTl4rIkSZ-p-BFub1Kz4o8xpuHZhLsOlSMXRgED-ILU130_head.
- NP703548.RAbTl4rIkSZ-p-BFub1Kz4o8xpuHZhLsOlSMXRgED-ILU130_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." NP703548.RAbTl4rIkSZ-p-BFub1Kz4o8xpuHZhLsOlSMXRgED-ILU130_provenance.
- NP703548.RAbTl4rIkSZ-p-BFub1Kz4o8xpuHZhLsOlSMXRgED-ILU130_assertion evidence source_evidence_literature NP703548.RAbTl4rIkSZ-p-BFub1Kz4o8xpuHZhLsOlSMXRgED-ILU130_provenance.
- NP703548.RAbTl4rIkSZ-p-BFub1Kz4o8xpuHZhLsOlSMXRgED-ILU130_assertion SIO_000772 19378506 NP703548.RAbTl4rIkSZ-p-BFub1Kz4o8xpuHZhLsOlSMXRgED-ILU130_provenance.
- NP703548.RAbTl4rIkSZ-p-BFub1Kz4o8xpuHZhLsOlSMXRgED-ILU130_assertion wasDerivedFrom befree-20150227 NP703548.RAbTl4rIkSZ-p-BFub1Kz4o8xpuHZhLsOlSMXRgED-ILU130_provenance.
- NP703548.RAbTl4rIkSZ-p-BFub1Kz4o8xpuHZhLsOlSMXRgED-ILU130_assertion wasGeneratedBy ECO_0000203 NP703548.RAbTl4rIkSZ-p-BFub1Kz4o8xpuHZhLsOlSMXRgED-ILU130_provenance.