Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP195840.RASNBBk_-wZJcViJ4Wc1rjJ_7FmtRiN8u9xR08daWMHeY130_assertion> ?p ?o ?g. }
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- NP195840.RASNBBk_-wZJcViJ4Wc1rjJ_7FmtRiN8u9xR08daWMHeY130_assertion type Assertion NP195840.RASNBBk_-wZJcViJ4Wc1rjJ_7FmtRiN8u9xR08daWMHeY130_head.
- 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.