Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP553309.RAHiiAZM1RN1C_G2nOaDBsUiLljpdwjp3L5nF3EvCR97g#assertion> ?p ?o ?g. }
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- 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." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 19157874 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.