Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP2967.RAqBzWhhhPmY5DbvexlG2IEYCFgskV_lNoFQ7y2nkdeqg130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP2967.RAqBzWhhhPmY5DbvexlG2IEYCFgskV_lNoFQ7y2nkdeqg130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP2967.RAqBzWhhhPmY5DbvexlG2IEYCFgskV_lNoFQ7y2nkdeqg130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP2967.RAqBzWhhhPmY5DbvexlG2IEYCFgskV_lNoFQ7y2nkdeqg130_provenance.
- NP2967.RAqBzWhhhPmY5DbvexlG2IEYCFgskV_lNoFQ7y2nkdeqg130_assertion description "[Identification of splicing mutations of the last nucleotides of exons, a nonsense mutation, and a missense mutation of the XPAC gene as causes of group A xeroderma pigmentosum.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2967.RAqBzWhhhPmY5DbvexlG2IEYCFgskV_lNoFQ7y2nkdeqg130_provenance.
- NP2967.RAqBzWhhhPmY5DbvexlG2IEYCFgskV_lNoFQ7y2nkdeqg130_assertion evidence source_evidence_curated NP2967.RAqBzWhhhPmY5DbvexlG2IEYCFgskV_lNoFQ7y2nkdeqg130_provenance.
- NP2967.RAqBzWhhhPmY5DbvexlG2IEYCFgskV_lNoFQ7y2nkdeqg130_assertion SIO_000772 1372103 NP2967.RAqBzWhhhPmY5DbvexlG2IEYCFgskV_lNoFQ7y2nkdeqg130_provenance.
- NP2967.RAqBzWhhhPmY5DbvexlG2IEYCFgskV_lNoFQ7y2nkdeqg130_assertion wasDerivedFrom uniprot-2016 NP2967.RAqBzWhhhPmY5DbvexlG2IEYCFgskV_lNoFQ7y2nkdeqg130_provenance.
- NP2967.RAqBzWhhhPmY5DbvexlG2IEYCFgskV_lNoFQ7y2nkdeqg130_assertion wasGeneratedBy ECO_0000218 NP2967.RAqBzWhhhPmY5DbvexlG2IEYCFgskV_lNoFQ7y2nkdeqg130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP2967.RAqBzWhhhPmY5DbvexlG2IEYCFgskV_lNoFQ7y2nkdeqg130_provenance.