Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP483588.RAyOsXe8qMPSsMIHX7buOPT6LQ3OUkq82UqoLD7jmgRXs130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP483588.RAyOsXe8qMPSsMIHX7buOPT6LQ3OUkq82UqoLD7jmgRXs130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP483588.RAyOsXe8qMPSsMIHX7buOPT6LQ3OUkq82UqoLD7jmgRXs130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP483588.RAyOsXe8qMPSsMIHX7buOPT6LQ3OUkq82UqoLD7jmgRXs130_provenance.
- NP483588.RAyOsXe8qMPSsMIHX7buOPT6LQ3OUkq82UqoLD7jmgRXs130_assertion description "[Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive neuromuscular disease of unknown prevalence characterized by degeneration of anterior horn alpha-motoneurons and manifesting in the first 6months of life as life-threatening irreversible diaphragmatic paralysis associated with progressive symmetrical muscular weakness (distal lower limbs mainly involved), muscle atrophy, and peripheral sensory neuropathy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP483588.RAyOsXe8qMPSsMIHX7buOPT6LQ3OUkq82UqoLD7jmgRXs130_provenance.
- NP483588.RAyOsXe8qMPSsMIHX7buOPT6LQ3OUkq82UqoLD7jmgRXs130_assertion evidence source_evidence_literature NP483588.RAyOsXe8qMPSsMIHX7buOPT6LQ3OUkq82UqoLD7jmgRXs130_provenance.
- NP483588.RAyOsXe8qMPSsMIHX7buOPT6LQ3OUkq82UqoLD7jmgRXs130_assertion SIO_000772 16964485 NP483588.RAyOsXe8qMPSsMIHX7buOPT6LQ3OUkq82UqoLD7jmgRXs130_provenance.
- NP483588.RAyOsXe8qMPSsMIHX7buOPT6LQ3OUkq82UqoLD7jmgRXs130_assertion wasDerivedFrom befree-20140225 NP483588.RAyOsXe8qMPSsMIHX7buOPT6LQ3OUkq82UqoLD7jmgRXs130_provenance.
- NP483588.RAyOsXe8qMPSsMIHX7buOPT6LQ3OUkq82UqoLD7jmgRXs130_assertion wasGeneratedBy ECO_0000203 NP483588.RAyOsXe8qMPSsMIHX7buOPT6LQ3OUkq82UqoLD7jmgRXs130_provenance.
- befree-20140225 importedOn "2014-02-25" NP483588.RAyOsXe8qMPSsMIHX7buOPT6LQ3OUkq82UqoLD7jmgRXs130_provenance.