Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP880211.RAxVaWkf9j159yAUsKKklDtSgdB-PSx4K5kV5YI-xuJps130_assertion> ?p ?o ?g. }
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- NP880211.RAxVaWkf9j159yAUsKKklDtSgdB-PSx4K5kV5YI-xuJps130_assertion type Assertion NP880211.RAxVaWkf9j159yAUsKKklDtSgdB-PSx4K5kV5YI-xuJps130_head.
- NP880211.RAxVaWkf9j159yAUsKKklDtSgdB-PSx4K5kV5YI-xuJps130_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." NP880211.RAxVaWkf9j159yAUsKKklDtSgdB-PSx4K5kV5YI-xuJps130_provenance.
- NP880211.RAxVaWkf9j159yAUsKKklDtSgdB-PSx4K5kV5YI-xuJps130_assertion evidence source_evidence_literature NP880211.RAxVaWkf9j159yAUsKKklDtSgdB-PSx4K5kV5YI-xuJps130_provenance.
- NP880211.RAxVaWkf9j159yAUsKKklDtSgdB-PSx4K5kV5YI-xuJps130_assertion SIO_000772 19061983 NP880211.RAxVaWkf9j159yAUsKKklDtSgdB-PSx4K5kV5YI-xuJps130_provenance.
- NP880211.RAxVaWkf9j159yAUsKKklDtSgdB-PSx4K5kV5YI-xuJps130_assertion wasDerivedFrom befree-20140225 NP880211.RAxVaWkf9j159yAUsKKklDtSgdB-PSx4K5kV5YI-xuJps130_provenance.
- NP880211.RAxVaWkf9j159yAUsKKklDtSgdB-PSx4K5kV5YI-xuJps130_assertion wasGeneratedBy ECO_0000203 NP880211.RAxVaWkf9j159yAUsKKklDtSgdB-PSx4K5kV5YI-xuJps130_provenance.