Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP211.RA51RXpkvwnTqBJn9DMkp-7IDdbLWowh2E8k5UBIwDqY8130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP211.RA51RXpkvwnTqBJn9DMkp-7IDdbLWowh2E8k5UBIwDqY8130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP211.RA51RXpkvwnTqBJn9DMkp-7IDdbLWowh2E8k5UBIwDqY8130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP211.RA51RXpkvwnTqBJn9DMkp-7IDdbLWowh2E8k5UBIwDqY8130_provenance.
- NP211.RA51RXpkvwnTqBJn9DMkp-7IDdbLWowh2E8k5UBIwDqY8130_assertion description "[Identification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated children with partial ADA deficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP211.RA51RXpkvwnTqBJn9DMkp-7IDdbLWowh2E8k5UBIwDqY8130_provenance.
- NP211.RA51RXpkvwnTqBJn9DMkp-7IDdbLWowh2E8k5UBIwDqY8130_assertion evidence source_evidence_curated NP211.RA51RXpkvwnTqBJn9DMkp-7IDdbLWowh2E8k5UBIwDqY8130_provenance.
- NP211.RA51RXpkvwnTqBJn9DMkp-7IDdbLWowh2E8k5UBIwDqY8130_assertion SIO_000772 2783588 NP211.RA51RXpkvwnTqBJn9DMkp-7IDdbLWowh2E8k5UBIwDqY8130_provenance.
- NP211.RA51RXpkvwnTqBJn9DMkp-7IDdbLWowh2E8k5UBIwDqY8130_assertion wasDerivedFrom uniprot-20130724 NP211.RA51RXpkvwnTqBJn9DMkp-7IDdbLWowh2E8k5UBIwDqY8130_provenance.
- NP211.RA51RXpkvwnTqBJn9DMkp-7IDdbLWowh2E8k5UBIwDqY8130_assertion wasGeneratedBy ECO_0000218 NP211.RA51RXpkvwnTqBJn9DMkp-7IDdbLWowh2E8k5UBIwDqY8130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP211.RA51RXpkvwnTqBJn9DMkp-7IDdbLWowh2E8k5UBIwDqY8130_provenance.