Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP657502.RAmyFSDkWOQcshYeuxEj1qKvt6_SP_tXZsCdG4aeYhjd0130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP657502.RAmyFSDkWOQcshYeuxEj1qKvt6_SP_tXZsCdG4aeYhjd0130_assertion type Assertion NP657502.RAmyFSDkWOQcshYeuxEj1qKvt6_SP_tXZsCdG4aeYhjd0130_head.
- NP657502.RAmyFSDkWOQcshYeuxEj1qKvt6_SP_tXZsCdG4aeYhjd0130_assertion description "[We propose that 9q34.11 genomic deletions involving ENG, TOR1A, STXBP1, and SPTAN1 are responsible for multisystemic vascular dysplasia, early-onset primary dystonia, epilepsy, and intellectual disability, therefore revealing cis-genetic effects leading to complex phenotypes.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP657502.RAmyFSDkWOQcshYeuxEj1qKvt6_SP_tXZsCdG4aeYhjd0130_provenance.
- NP657502.RAmyFSDkWOQcshYeuxEj1qKvt6_SP_tXZsCdG4aeYhjd0130_assertion evidence source_evidence_literature NP657502.RAmyFSDkWOQcshYeuxEj1qKvt6_SP_tXZsCdG4aeYhjd0130_provenance.
- NP657502.RAmyFSDkWOQcshYeuxEj1qKvt6_SP_tXZsCdG4aeYhjd0130_assertion SIO_000772 22722545 NP657502.RAmyFSDkWOQcshYeuxEj1qKvt6_SP_tXZsCdG4aeYhjd0130_provenance.
- NP657502.RAmyFSDkWOQcshYeuxEj1qKvt6_SP_tXZsCdG4aeYhjd0130_assertion wasDerivedFrom befree-20140225 NP657502.RAmyFSDkWOQcshYeuxEj1qKvt6_SP_tXZsCdG4aeYhjd0130_provenance.
- NP657502.RAmyFSDkWOQcshYeuxEj1qKvt6_SP_tXZsCdG4aeYhjd0130_assertion wasGeneratedBy ECO_0000203 NP657502.RAmyFSDkWOQcshYeuxEj1qKvt6_SP_tXZsCdG4aeYhjd0130_provenance.