Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP613158.RABxsoO6TmPJ8WPmATKh7nJvU0P2QUf-wqGc79s3fFbsg130_assertion> ?p ?o ?g. }
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- NP613158.RABxsoO6TmPJ8WPmATKh7nJvU0P2QUf-wqGc79s3fFbsg130_assertion type Assertion NP613158.RABxsoO6TmPJ8WPmATKh7nJvU0P2QUf-wqGc79s3fFbsg130_head.
- NP613158.RABxsoO6TmPJ8WPmATKh7nJvU0P2QUf-wqGc79s3fFbsg130_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." NP613158.RABxsoO6TmPJ8WPmATKh7nJvU0P2QUf-wqGc79s3fFbsg130_provenance.
- NP613158.RABxsoO6TmPJ8WPmATKh7nJvU0P2QUf-wqGc79s3fFbsg130_assertion evidence source_evidence_literature NP613158.RABxsoO6TmPJ8WPmATKh7nJvU0P2QUf-wqGc79s3fFbsg130_provenance.
- NP613158.RABxsoO6TmPJ8WPmATKh7nJvU0P2QUf-wqGc79s3fFbsg130_assertion SIO_000772 19061983 NP613158.RABxsoO6TmPJ8WPmATKh7nJvU0P2QUf-wqGc79s3fFbsg130_provenance.
- NP613158.RABxsoO6TmPJ8WPmATKh7nJvU0P2QUf-wqGc79s3fFbsg130_assertion wasDerivedFrom befree-20140225 NP613158.RABxsoO6TmPJ8WPmATKh7nJvU0P2QUf-wqGc79s3fFbsg130_provenance.
- NP613158.RABxsoO6TmPJ8WPmATKh7nJvU0P2QUf-wqGc79s3fFbsg130_assertion wasGeneratedBy ECO_0000203 NP613158.RABxsoO6TmPJ8WPmATKh7nJvU0P2QUf-wqGc79s3fFbsg130_provenance.