Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP703870.RAFE-9c_BofHDchI3RU1fmRKKEzT0RUoAGCfWaj--BF70130_assertion> ?p ?o ?g. }
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- NP703870.RAFE-9c_BofHDchI3RU1fmRKKEzT0RUoAGCfWaj--BF70130_assertion type Assertion NP703870.RAFE-9c_BofHDchI3RU1fmRKKEzT0RUoAGCfWaj--BF70130_head.
- NP703870.RAFE-9c_BofHDchI3RU1fmRKKEzT0RUoAGCfWaj--BF70130_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." NP703870.RAFE-9c_BofHDchI3RU1fmRKKEzT0RUoAGCfWaj--BF70130_provenance.
- NP703870.RAFE-9c_BofHDchI3RU1fmRKKEzT0RUoAGCfWaj--BF70130_assertion evidence source_evidence_literature NP703870.RAFE-9c_BofHDchI3RU1fmRKKEzT0RUoAGCfWaj--BF70130_provenance.
- NP703870.RAFE-9c_BofHDchI3RU1fmRKKEzT0RUoAGCfWaj--BF70130_assertion SIO_000772 19378506 NP703870.RAFE-9c_BofHDchI3RU1fmRKKEzT0RUoAGCfWaj--BF70130_provenance.
- NP703870.RAFE-9c_BofHDchI3RU1fmRKKEzT0RUoAGCfWaj--BF70130_assertion wasDerivedFrom befree-20150227 NP703870.RAFE-9c_BofHDchI3RU1fmRKKEzT0RUoAGCfWaj--BF70130_provenance.
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