Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP110184.RA4J0sB8znDqMH6dI_9YsYLyOVYMzSxn3z8cbSMKja7pM130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP110184.RA4J0sB8znDqMH6dI_9YsYLyOVYMzSxn3z8cbSMKja7pM130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP110184.RA4J0sB8znDqMH6dI_9YsYLyOVYMzSxn3z8cbSMKja7pM130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP110184.RA4J0sB8znDqMH6dI_9YsYLyOVYMzSxn3z8cbSMKja7pM130_provenance.
- NP110184.RA4J0sB8znDqMH6dI_9YsYLyOVYMzSxn3z8cbSMKja7pM130_assertion description "[A 14 year old girl presented with severe generalized dystonia, ataxia, ocular motor apraxia, and areflexia.and homozygous for an insertion mutation of aprataxin (APTX), 689 ins T.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP110184.RA4J0sB8znDqMH6dI_9YsYLyOVYMzSxn3z8cbSMKja7pM130_provenance.
- NP110184.RA4J0sB8znDqMH6dI_9YsYLyOVYMzSxn3z8cbSMKja7pM130_assertion evidence source_evidence_literature NP110184.RA4J0sB8znDqMH6dI_9YsYLyOVYMzSxn3z8cbSMKja7pM130_provenance.
- NP110184.RA4J0sB8znDqMH6dI_9YsYLyOVYMzSxn3z8cbSMKja7pM130_assertion SIO_000772 14534929 NP110184.RA4J0sB8znDqMH6dI_9YsYLyOVYMzSxn3z8cbSMKja7pM130_provenance.
- NP110184.RA4J0sB8znDqMH6dI_9YsYLyOVYMzSxn3z8cbSMKja7pM130_assertion wasDerivedFrom lhgdn-20090331 NP110184.RA4J0sB8znDqMH6dI_9YsYLyOVYMzSxn3z8cbSMKja7pM130_provenance.
- NP110184.RA4J0sB8znDqMH6dI_9YsYLyOVYMzSxn3z8cbSMKja7pM130_assertion wasGeneratedBy ECO_0000203 NP110184.RA4J0sB8znDqMH6dI_9YsYLyOVYMzSxn3z8cbSMKja7pM130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP110184.RA4J0sB8znDqMH6dI_9YsYLyOVYMzSxn3z8cbSMKja7pM130_provenance.