Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP104.RAy9w-sRGP9P3dSgT6NcJlKXJMavSeZEn62UPWQrt_zBw130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP104.RAy9w-sRGP9P3dSgT6NcJlKXJMavSeZEn62UPWQrt_zBw130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP104.RAy9w-sRGP9P3dSgT6NcJlKXJMavSeZEn62UPWQrt_zBw130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP104.RAy9w-sRGP9P3dSgT6NcJlKXJMavSeZEn62UPWQrt_zBw130_provenance.
- NP104.RAy9w-sRGP9P3dSgT6NcJlKXJMavSeZEn62UPWQrt_zBw130_assertion description "[We analyzed the entire protein-coding sequence of this gene by reverse-transcription PCR, SSCP, and DNA sequencing in five patients with different clinical expression of X-ALD and in their female relatives; these clinical expressions were cerebral childhood ALD, adrenomyeloneuropathy (AMN), and `Addison disease only` (ADO) phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP104.RAy9w-sRGP9P3dSgT6NcJlKXJMavSeZEn62UPWQrt_zBw130_provenance.
- NP104.RAy9w-sRGP9P3dSgT6NcJlKXJMavSeZEn62UPWQrt_zBw130_assertion evidence source_evidence_curated NP104.RAy9w-sRGP9P3dSgT6NcJlKXJMavSeZEn62UPWQrt_zBw130_provenance.
- NP104.RAy9w-sRGP9P3dSgT6NcJlKXJMavSeZEn62UPWQrt_zBw130_assertion SIO_000772 7717396 NP104.RAy9w-sRGP9P3dSgT6NcJlKXJMavSeZEn62UPWQrt_zBw130_provenance.
- NP104.RAy9w-sRGP9P3dSgT6NcJlKXJMavSeZEn62UPWQrt_zBw130_assertion wasDerivedFrom uniprot-20130724 NP104.RAy9w-sRGP9P3dSgT6NcJlKXJMavSeZEn62UPWQrt_zBw130_provenance.
- NP104.RAy9w-sRGP9P3dSgT6NcJlKXJMavSeZEn62UPWQrt_zBw130_assertion wasGeneratedBy ECO_0000218 NP104.RAy9w-sRGP9P3dSgT6NcJlKXJMavSeZEn62UPWQrt_zBw130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP104.RAy9w-sRGP9P3dSgT6NcJlKXJMavSeZEn62UPWQrt_zBw130_provenance.