Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1184031.RA5y-Lfr0taLk_gIXsbJIYeciGfZTMUp4MvRsz4vO9QcU130_assertion> ?p ?o ?g. }
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- NP1184031.RA5y-Lfr0taLk_gIXsbJIYeciGfZTMUp4MvRsz4vO9QcU130_assertion type Assertion NP1184031.RA5y-Lfr0taLk_gIXsbJIYeciGfZTMUp4MvRsz4vO9QcU130_head.
- NP1184031.RA5y-Lfr0taLk_gIXsbJIYeciGfZTMUp4MvRsz4vO9QcU130_assertion description "[Mutation p.Pro244Leu, not described so far, was identified in a patient with a mild form of SMA and more distal distribution of muscle weakness.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1184031.RA5y-Lfr0taLk_gIXsbJIYeciGfZTMUp4MvRsz4vO9QcU130_provenance.
- NP1184031.RA5y-Lfr0taLk_gIXsbJIYeciGfZTMUp4MvRsz4vO9QcU130_assertion evidence source_evidence_literature NP1184031.RA5y-Lfr0taLk_gIXsbJIYeciGfZTMUp4MvRsz4vO9QcU130_provenance.
- NP1184031.RA5y-Lfr0taLk_gIXsbJIYeciGfZTMUp4MvRsz4vO9QcU130_assertion SIO_000772 24844453 NP1184031.RA5y-Lfr0taLk_gIXsbJIYeciGfZTMUp4MvRsz4vO9QcU130_provenance.
- NP1184031.RA5y-Lfr0taLk_gIXsbJIYeciGfZTMUp4MvRsz4vO9QcU130_assertion wasDerivedFrom befree-2016 NP1184031.RA5y-Lfr0taLk_gIXsbJIYeciGfZTMUp4MvRsz4vO9QcU130_provenance.
- NP1184031.RA5y-Lfr0taLk_gIXsbJIYeciGfZTMUp4MvRsz4vO9QcU130_assertion wasGeneratedBy ECO_0000203 NP1184031.RA5y-Lfr0taLk_gIXsbJIYeciGfZTMUp4MvRsz4vO9QcU130_provenance.