Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP2755.RAdYauzVAlR--839e9Nt73Q-fC_aMMCsV6nvpSmvL3vZU130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP2755.RAdYauzVAlR--839e9Nt73Q-fC_aMMCsV6nvpSmvL3vZU130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP2755.RAdYauzVAlR--839e9Nt73Q-fC_aMMCsV6nvpSmvL3vZU130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP2755.RAdYauzVAlR--839e9Nt73Q-fC_aMMCsV6nvpSmvL3vZU130_provenance.
- NP2755.RAdYauzVAlR--839e9Nt73Q-fC_aMMCsV6nvpSmvL3vZU130_assertion description "[We report on the striking variable expression of adenylosuccinate lyase (ADSL) deficiency in three patients belonging to a family which originates from Portugal.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP2755.RAdYauzVAlR--839e9Nt73Q-fC_aMMCsV6nvpSmvL3vZU130_provenance.
- NP2755.RAdYauzVAlR--839e9Nt73Q-fC_aMMCsV6nvpSmvL3vZU130_assertion evidence source_evidence_curated NP2755.RAdYauzVAlR--839e9Nt73Q-fC_aMMCsV6nvpSmvL3vZU130_provenance.
- NP2755.RAdYauzVAlR--839e9Nt73Q-fC_aMMCsV6nvpSmvL3vZU130_assertion SIO_000772 12833398 NP2755.RAdYauzVAlR--839e9Nt73Q-fC_aMMCsV6nvpSmvL3vZU130_provenance.
- NP2755.RAdYauzVAlR--839e9Nt73Q-fC_aMMCsV6nvpSmvL3vZU130_assertion wasDerivedFrom uniprot-2016 NP2755.RAdYauzVAlR--839e9Nt73Q-fC_aMMCsV6nvpSmvL3vZU130_provenance.
- NP2755.RAdYauzVAlR--839e9Nt73Q-fC_aMMCsV6nvpSmvL3vZU130_assertion wasGeneratedBy ECO_0000218 NP2755.RAdYauzVAlR--839e9Nt73Q-fC_aMMCsV6nvpSmvL3vZU130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP2755.RAdYauzVAlR--839e9Nt73Q-fC_aMMCsV6nvpSmvL3vZU130_provenance.