Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP226596.RA6aqPs8c0X_4lD-txFLEhM24OchtlR2so3HYsqU5FF2Y130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP226596.RA6aqPs8c0X_4lD-txFLEhM24OchtlR2so3HYsqU5FF2Y130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP226596.RA6aqPs8c0X_4lD-txFLEhM24OchtlR2so3HYsqU5FF2Y130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP226596.RA6aqPs8c0X_4lD-txFLEhM24OchtlR2so3HYsqU5FF2Y130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP226596.RA6aqPs8c0X_4lD-txFLEhM24OchtlR2so3HYsqU5FF2Y130_provenance.
- NP226596.RA6aqPs8c0X_4lD-txFLEhM24OchtlR2so3HYsqU5FF2Y130_assertion wasGeneratedBy ECO_0000203 NP226596.RA6aqPs8c0X_4lD-txFLEhM24OchtlR2so3HYsqU5FF2Y130_provenance.
- NP226596.RA6aqPs8c0X_4lD-txFLEhM24OchtlR2so3HYsqU5FF2Y130_assertion wasDerivedFrom lhgdn-20090331 NP226596.RA6aqPs8c0X_4lD-txFLEhM24OchtlR2so3HYsqU5FF2Y130_provenance.
- NP226596.RA6aqPs8c0X_4lD-txFLEhM24OchtlR2so3HYsqU5FF2Y130_assertion SIO_000772 17594340 NP226596.RA6aqPs8c0X_4lD-txFLEhM24OchtlR2so3HYsqU5FF2Y130_provenance.
- NP226596.RA6aqPs8c0X_4lD-txFLEhM24OchtlR2so3HYsqU5FF2Y130_assertion evidence source_evidence_literature NP226596.RA6aqPs8c0X_4lD-txFLEhM24OchtlR2so3HYsqU5FF2Y130_provenance.
- NP226596.RA6aqPs8c0X_4lD-txFLEhM24OchtlR2so3HYsqU5FF2Y130_assertion description "[7 new SPG4 point mutations (including missense mutations R364T, L380H, M579H) and 2 new deletions are reported/mutations and deletions are a significant cause of hereditary spastic paraplegia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP226596.RA6aqPs8c0X_4lD-txFLEhM24OchtlR2so3HYsqU5FF2Y130_provenance.