Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP755748.RAzhhYtDUHszHj2QzVnHGZI0wV-NWfdPYd-KrUVj265UQ130_assertion> ?p ?o ?g. }
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- NP755748.RAzhhYtDUHszHj2QzVnHGZI0wV-NWfdPYd-KrUVj265UQ130_assertion type Assertion NP755748.RAzhhYtDUHszHj2QzVnHGZI0wV-NWfdPYd-KrUVj265UQ130_head.
- NP755748.RAzhhYtDUHszHj2QzVnHGZI0wV-NWfdPYd-KrUVj265UQ130_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." NP755748.RAzhhYtDUHszHj2QzVnHGZI0wV-NWfdPYd-KrUVj265UQ130_provenance.
- NP755748.RAzhhYtDUHszHj2QzVnHGZI0wV-NWfdPYd-KrUVj265UQ130_assertion evidence source_evidence_literature NP755748.RAzhhYtDUHszHj2QzVnHGZI0wV-NWfdPYd-KrUVj265UQ130_provenance.
- NP755748.RAzhhYtDUHszHj2QzVnHGZI0wV-NWfdPYd-KrUVj265UQ130_assertion SIO_000772 19378506 NP755748.RAzhhYtDUHszHj2QzVnHGZI0wV-NWfdPYd-KrUVj265UQ130_provenance.
- NP755748.RAzhhYtDUHszHj2QzVnHGZI0wV-NWfdPYd-KrUVj265UQ130_assertion wasDerivedFrom befree-20140225 NP755748.RAzhhYtDUHszHj2QzVnHGZI0wV-NWfdPYd-KrUVj265UQ130_provenance.
- NP755748.RAzhhYtDUHszHj2QzVnHGZI0wV-NWfdPYd-KrUVj265UQ130_assertion wasGeneratedBy ECO_0000203 NP755748.RAzhhYtDUHszHj2QzVnHGZI0wV-NWfdPYd-KrUVj265UQ130_provenance.