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- source_evidence_literature type ECO_0000212 NP613158.RABxsoO6TmPJ8WPmATKh7nJvU0P2QUf-wqGc79s3fFbsg130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP613158.RABxsoO6TmPJ8WPmATKh7nJvU0P2QUf-wqGc79s3fFbsg130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP613158.RABxsoO6TmPJ8WPmATKh7nJvU0P2QUf-wqGc79s3fFbsg130_provenance.
- 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.
- befree-20140225 importedOn "2014-02-25" NP613158.RABxsoO6TmPJ8WPmATKh7nJvU0P2QUf-wqGc79s3fFbsg130_provenance.