Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1176405.RAKMcPb1a_sCyCLOScb5_SQE5fDNY_PxDVfm_isd7Ywk4#assertion> ?p ?o ?g. }
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- assertion description "[A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.
- assertion evidence source_evidence_literature provenance.
- assertion SIO_000772 19061983 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion wasGeneratedBy ECO_0000203 provenance.