Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP599771.RAQrXo_bcFKQ6VuGCQ4dZ7Xj7bN7PPz2qTZHDfjNqUGek130_assertion> ?p ?o ?g. }
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- NP599771.RAQrXo_bcFKQ6VuGCQ4dZ7Xj7bN7PPz2qTZHDfjNqUGek130_assertion type Assertion NP599771.RAQrXo_bcFKQ6VuGCQ4dZ7Xj7bN7PPz2qTZHDfjNqUGek130_head.
- NP599771.RAQrXo_bcFKQ6VuGCQ4dZ7Xj7bN7PPz2qTZHDfjNqUGek130_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." NP599771.RAQrXo_bcFKQ6VuGCQ4dZ7Xj7bN7PPz2qTZHDfjNqUGek130_provenance.
- NP599771.RAQrXo_bcFKQ6VuGCQ4dZ7Xj7bN7PPz2qTZHDfjNqUGek130_assertion evidence source_evidence_literature NP599771.RAQrXo_bcFKQ6VuGCQ4dZ7Xj7bN7PPz2qTZHDfjNqUGek130_provenance.
- NP599771.RAQrXo_bcFKQ6VuGCQ4dZ7Xj7bN7PPz2qTZHDfjNqUGek130_assertion SIO_000772 19378506 NP599771.RAQrXo_bcFKQ6VuGCQ4dZ7Xj7bN7PPz2qTZHDfjNqUGek130_provenance.
- NP599771.RAQrXo_bcFKQ6VuGCQ4dZ7Xj7bN7PPz2qTZHDfjNqUGek130_assertion wasDerivedFrom befree-20140225 NP599771.RAQrXo_bcFKQ6VuGCQ4dZ7Xj7bN7PPz2qTZHDfjNqUGek130_provenance.
- NP599771.RAQrXo_bcFKQ6VuGCQ4dZ7Xj7bN7PPz2qTZHDfjNqUGek130_assertion wasGeneratedBy ECO_0000203 NP599771.RAQrXo_bcFKQ6VuGCQ4dZ7Xj7bN7PPz2qTZHDfjNqUGek130_provenance.