Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP343.RADnNDP2EX0eo-5bnpFPI_myKrtfKlvXFITRfJgCWzkaE130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP343.RADnNDP2EX0eo-5bnpFPI_myKrtfKlvXFITRfJgCWzkaE130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP343.RADnNDP2EX0eo-5bnpFPI_myKrtfKlvXFITRfJgCWzkaE130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP343.RADnNDP2EX0eo-5bnpFPI_myKrtfKlvXFITRfJgCWzkaE130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP343.RADnNDP2EX0eo-5bnpFPI_myKrtfKlvXFITRfJgCWzkaE130_provenance.
- NP343.RADnNDP2EX0eo-5bnpFPI_myKrtfKlvXFITRfJgCWzkaE130_assertion wasGeneratedBy ECO_0000218 NP343.RADnNDP2EX0eo-5bnpFPI_myKrtfKlvXFITRfJgCWzkaE130_provenance.
- NP343.RADnNDP2EX0eo-5bnpFPI_myKrtfKlvXFITRfJgCWzkaE130_assertion wasDerivedFrom uniprot-2016 NP343.RADnNDP2EX0eo-5bnpFPI_myKrtfKlvXFITRfJgCWzkaE130_provenance.
- NP343.RADnNDP2EX0eo-5bnpFPI_myKrtfKlvXFITRfJgCWzkaE130_assertion SIO_000772 10453743 NP343.RADnNDP2EX0eo-5bnpFPI_myKrtfKlvXFITRfJgCWzkaE130_provenance.
- NP343.RADnNDP2EX0eo-5bnpFPI_myKrtfKlvXFITRfJgCWzkaE130_assertion evidence source_evidence_curated NP343.RADnNDP2EX0eo-5bnpFPI_myKrtfKlvXFITRfJgCWzkaE130_provenance.
- NP343.RADnNDP2EX0eo-5bnpFPI_myKrtfKlvXFITRfJgCWzkaE130_assertion description "[Systematic screening using the SSCP technique followed by sequencing of bands with abnormal mobility derived from the AGXT exons of 15 unrelated Italian patients with primary hyperoxaluria type 1 (PH1) allowed us to characterize both the mutant alleles in each individual.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP343.RADnNDP2EX0eo-5bnpFPI_myKrtfKlvXFITRfJgCWzkaE130_provenance.