Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP733320.RAY6AipuTzvtSNSrUCA99KYoBemY7724VJpD2fHPCyUPk130_assertion> ?p ?o ?g. }
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- NP733320.RAY6AipuTzvtSNSrUCA99KYoBemY7724VJpD2fHPCyUPk130_assertion type Assertion NP733320.RAY6AipuTzvtSNSrUCA99KYoBemY7724VJpD2fHPCyUPk130_head.
- NP733320.RAY6AipuTzvtSNSrUCA99KYoBemY7724VJpD2fHPCyUPk130_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." NP733320.RAY6AipuTzvtSNSrUCA99KYoBemY7724VJpD2fHPCyUPk130_provenance.
- NP733320.RAY6AipuTzvtSNSrUCA99KYoBemY7724VJpD2fHPCyUPk130_assertion evidence source_evidence_literature NP733320.RAY6AipuTzvtSNSrUCA99KYoBemY7724VJpD2fHPCyUPk130_provenance.
- NP733320.RAY6AipuTzvtSNSrUCA99KYoBemY7724VJpD2fHPCyUPk130_assertion SIO_000772 19378506 NP733320.RAY6AipuTzvtSNSrUCA99KYoBemY7724VJpD2fHPCyUPk130_provenance.
- NP733320.RAY6AipuTzvtSNSrUCA99KYoBemY7724VJpD2fHPCyUPk130_assertion wasDerivedFrom befree-2016 NP733320.RAY6AipuTzvtSNSrUCA99KYoBemY7724VJpD2fHPCyUPk130_provenance.
- NP733320.RAY6AipuTzvtSNSrUCA99KYoBemY7724VJpD2fHPCyUPk130_assertion wasGeneratedBy ECO_0000203 NP733320.RAY6AipuTzvtSNSrUCA99KYoBemY7724VJpD2fHPCyUPk130_provenance.