Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP6723.RABkws-_YLaGvb8kepnc-6QQibRtt71xCZ0DWAWGLAIzM130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP6723.RABkws-_YLaGvb8kepnc-6QQibRtt71xCZ0DWAWGLAIzM130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP6723.RABkws-_YLaGvb8kepnc-6QQibRtt71xCZ0DWAWGLAIzM130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP6723.RABkws-_YLaGvb8kepnc-6QQibRtt71xCZ0DWAWGLAIzM130_provenance.
- NP6723.RABkws-_YLaGvb8kepnc-6QQibRtt71xCZ0DWAWGLAIzM130_assertion description "[There are 35 missense mutations among 68 different mutations in the TPP1 gene, which encodes tripeptidyl peptidase I (TPPI), a lysosomal aminopeptidase associated with classic late-infantile neuronal ceroid lipofuscinosis (CLN2 disease).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP6723.RABkws-_YLaGvb8kepnc-6QQibRtt71xCZ0DWAWGLAIzM130_provenance.
- NP6723.RABkws-_YLaGvb8kepnc-6QQibRtt71xCZ0DWAWGLAIzM130_assertion evidence source_evidence_curated NP6723.RABkws-_YLaGvb8kepnc-6QQibRtt71xCZ0DWAWGLAIzM130_provenance.
- NP6723.RABkws-_YLaGvb8kepnc-6QQibRtt71xCZ0DWAWGLAIzM130_assertion SIO_000772 20340139 NP6723.RABkws-_YLaGvb8kepnc-6QQibRtt71xCZ0DWAWGLAIzM130_provenance.
- NP6723.RABkws-_YLaGvb8kepnc-6QQibRtt71xCZ0DWAWGLAIzM130_assertion wasDerivedFrom uniprot-20130724 NP6723.RABkws-_YLaGvb8kepnc-6QQibRtt71xCZ0DWAWGLAIzM130_provenance.
- NP6723.RABkws-_YLaGvb8kepnc-6QQibRtt71xCZ0DWAWGLAIzM130_assertion wasGeneratedBy ECO_0000218 NP6723.RABkws-_YLaGvb8kepnc-6QQibRtt71xCZ0DWAWGLAIzM130_provenance.
- uniprot-20130724 importedOn "2013-07-24" NP6723.RABkws-_YLaGvb8kepnc-6QQibRtt71xCZ0DWAWGLAIzM130_provenance.