Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP499454.RAVmkmFoHD7z7euU8J8C3znJH_5c0TFthGsiTRJcmkXes130_assertion> ?p ?o ?g. }
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- NP499454.RAVmkmFoHD7z7euU8J8C3znJH_5c0TFthGsiTRJcmkXes130_assertion type Assertion NP499454.RAVmkmFoHD7z7euU8J8C3znJH_5c0TFthGsiTRJcmkXes130_head.
- NP499454.RAVmkmFoHD7z7euU8J8C3znJH_5c0TFthGsiTRJcmkXes130_assertion description "[Spinal muscular atrophy with respiratory distress (SMARD1: mu-binding protein 2 gene mutation) is characterised by low birth weight, progressive distal limb weakness, diaphragmatic paralysis and subsequent respiratory failure manifesting before 13 months of age.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP499454.RAVmkmFoHD7z7euU8J8C3znJH_5c0TFthGsiTRJcmkXes130_provenance.
- NP499454.RAVmkmFoHD7z7euU8J8C3znJH_5c0TFthGsiTRJcmkXes130_assertion evidence source_evidence_literature NP499454.RAVmkmFoHD7z7euU8J8C3znJH_5c0TFthGsiTRJcmkXes130_provenance.
- NP499454.RAVmkmFoHD7z7euU8J8C3znJH_5c0TFthGsiTRJcmkXes130_assertion SIO_000772 19157874 NP499454.RAVmkmFoHD7z7euU8J8C3znJH_5c0TFthGsiTRJcmkXes130_provenance.
- NP499454.RAVmkmFoHD7z7euU8J8C3znJH_5c0TFthGsiTRJcmkXes130_assertion wasDerivedFrom befree-20140225 NP499454.RAVmkmFoHD7z7euU8J8C3znJH_5c0TFthGsiTRJcmkXes130_provenance.
- NP499454.RAVmkmFoHD7z7euU8J8C3znJH_5c0TFthGsiTRJcmkXes130_assertion wasGeneratedBy ECO_0000203 NP499454.RAVmkmFoHD7z7euU8J8C3znJH_5c0TFthGsiTRJcmkXes130_provenance.