Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP553322.RAm9JKZF4XJdTuYHMUtzQw7w3QBuhPM-E8PqYfoxCSX_w#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 12112104 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[The sequencing of IGHMBP2, the human homologue of the mouse neuromuscular degeneration gene (nmd) that accounts for spinal muscular atrophy with respiratory distress, failed to detect any mutation in our chronic distal spinal muscular atrophy patients, suggesting that spinal muscular atrophy with respiratory distress and chronic distal spinal muscular atrophy are caused by distinct genes located in the same chromosomal region.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.