Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP195840.RASNBBk_-wZJcViJ4Wc1rjJ_7FmtRiN8u9xR08daWMHeY130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP195840.RASNBBk_-wZJcViJ4Wc1rjJ_7FmtRiN8u9xR08daWMHeY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP195840.RASNBBk_-wZJcViJ4Wc1rjJ_7FmtRiN8u9xR08daWMHeY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP195840.RASNBBk_-wZJcViJ4Wc1rjJ_7FmtRiN8u9xR08daWMHeY130_provenance.
- NP195840.RASNBBk_-wZJcViJ4Wc1rjJ_7FmtRiN8u9xR08daWMHeY130_assertion description "[A new syndrome of X-linked myoclonic epilepsy with generalized spasticity and intellectual disability in boys (XMESID) has been described and a novel missense mutation (1058C > T) identified in the ARX open reading frame.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP195840.RASNBBk_-wZJcViJ4Wc1rjJ_7FmtRiN8u9xR08daWMHeY130_provenance.
- NP195840.RASNBBk_-wZJcViJ4Wc1rjJ_7FmtRiN8u9xR08daWMHeY130_assertion evidence source_evidence_literature NP195840.RASNBBk_-wZJcViJ4Wc1rjJ_7FmtRiN8u9xR08daWMHeY130_provenance.
- NP195840.RASNBBk_-wZJcViJ4Wc1rjJ_7FmtRiN8u9xR08daWMHeY130_assertion SIO_000772 12177367 NP195840.RASNBBk_-wZJcViJ4Wc1rjJ_7FmtRiN8u9xR08daWMHeY130_provenance.
- NP195840.RASNBBk_-wZJcViJ4Wc1rjJ_7FmtRiN8u9xR08daWMHeY130_assertion wasDerivedFrom lhgdn-20090331 NP195840.RASNBBk_-wZJcViJ4Wc1rjJ_7FmtRiN8u9xR08daWMHeY130_provenance.
- NP195840.RASNBBk_-wZJcViJ4Wc1rjJ_7FmtRiN8u9xR08daWMHeY130_assertion wasGeneratedBy ECO_0000203 NP195840.RASNBBk_-wZJcViJ4Wc1rjJ_7FmtRiN8u9xR08daWMHeY130_provenance.
- lhgdn-20090331 importedOn "2009-03-31" NP195840.RASNBBk_-wZJcViJ4Wc1rjJ_7FmtRiN8u9xR08daWMHeY130_provenance.