Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP6761.RAKX6_jhxS10JTA7z2aEvyLyX3ycMrrh9mLAMv11vN3uk130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP6761.RAKX6_jhxS10JTA7z2aEvyLyX3ycMrrh9mLAMv11vN3uk130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP6761.RAKX6_jhxS10JTA7z2aEvyLyX3ycMrrh9mLAMv11vN3uk130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP6761.RAKX6_jhxS10JTA7z2aEvyLyX3ycMrrh9mLAMv11vN3uk130_provenance.
- NP6761.RAKX6_jhxS10JTA7z2aEvyLyX3ycMrrh9mLAMv11vN3uk130_assertion description "[Novel V97G ASAH1 mutation found in Farber disease patients: unique appearance of the disease with an intermediate severity, and marked early involvement of central and peripheral nervous system.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6761.RAKX6_jhxS10JTA7z2aEvyLyX3ycMrrh9mLAMv11vN3uk130_provenance.
- NP6761.RAKX6_jhxS10JTA7z2aEvyLyX3ycMrrh9mLAMv11vN3uk130_assertion evidence source_evidence_curated NP6761.RAKX6_jhxS10JTA7z2aEvyLyX3ycMrrh9mLAMv11vN3uk130_provenance.
- NP6761.RAKX6_jhxS10JTA7z2aEvyLyX3ycMrrh9mLAMv11vN3uk130_assertion SIO_000772 21893389 NP6761.RAKX6_jhxS10JTA7z2aEvyLyX3ycMrrh9mLAMv11vN3uk130_provenance.
- NP6761.RAKX6_jhxS10JTA7z2aEvyLyX3ycMrrh9mLAMv11vN3uk130_assertion wasDerivedFrom uniprot-2016 NP6761.RAKX6_jhxS10JTA7z2aEvyLyX3ycMrrh9mLAMv11vN3uk130_provenance.
- NP6761.RAKX6_jhxS10JTA7z2aEvyLyX3ycMrrh9mLAMv11vN3uk130_assertion wasGeneratedBy ECO_0000218 NP6761.RAKX6_jhxS10JTA7z2aEvyLyX3ycMrrh9mLAMv11vN3uk130_provenance.
- uniprot-2016 importedOn "2016-01-25" NP6761.RAKX6_jhxS10JTA7z2aEvyLyX3ycMrrh9mLAMv11vN3uk130_provenance.