Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP9874.RA_zcdZvL4x0SVFply_e-O7hpOsdCtj7ieQWmkw3x6GW4130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP9874.RA_zcdZvL4x0SVFply_e-O7hpOsdCtj7ieQWmkw3x6GW4130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP9874.RA_zcdZvL4x0SVFply_e-O7hpOsdCtj7ieQWmkw3x6GW4130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP9874.RA_zcdZvL4x0SVFply_e-O7hpOsdCtj7ieQWmkw3x6GW4130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP9874.RA_zcdZvL4x0SVFply_e-O7hpOsdCtj7ieQWmkw3x6GW4130_provenance.
- NP9874.RA_zcdZvL4x0SVFply_e-O7hpOsdCtj7ieQWmkw3x6GW4130_assertion wasGeneratedBy ECO_0000218 NP9874.RA_zcdZvL4x0SVFply_e-O7hpOsdCtj7ieQWmkw3x6GW4130_provenance.
- NP9874.RA_zcdZvL4x0SVFply_e-O7hpOsdCtj7ieQWmkw3x6GW4130_assertion wasDerivedFrom uniprot-2016 NP9874.RA_zcdZvL4x0SVFply_e-O7hpOsdCtj7ieQWmkw3x6GW4130_provenance.
- NP9874.RA_zcdZvL4x0SVFply_e-O7hpOsdCtj7ieQWmkw3x6GW4130_assertion SIO_000772 9744477 NP9874.RA_zcdZvL4x0SVFply_e-O7hpOsdCtj7ieQWmkw3x6GW4130_provenance.
- NP9874.RA_zcdZvL4x0SVFply_e-O7hpOsdCtj7ieQWmkw3x6GW4130_assertion evidence source_evidence_curated NP9874.RA_zcdZvL4x0SVFply_e-O7hpOsdCtj7ieQWmkw3x6GW4130_provenance.
- NP9874.RA_zcdZvL4x0SVFply_e-O7hpOsdCtj7ieQWmkw3x6GW4130_assertion description "[This study demonstrates that FAMA allows rapid and reliable detection of mutations in the L1CAM gene and thus represents one of the most appropriate methods to provide diagnosis for accurate genetic counseling in families with HSAS, MASA, or SPG1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP9874.RA_zcdZvL4x0SVFply_e-O7hpOsdCtj7ieQWmkw3x6GW4130_provenance.