Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP314432.RAUsr3huXNzISoC2GGLYL_os5av-xLikMVzyTIMGRVb4s130_assertion> ?p ?o ?g. }
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- NP314432.RAUsr3huXNzISoC2GGLYL_os5av-xLikMVzyTIMGRVb4s130_assertion type Assertion NP314432.RAUsr3huXNzISoC2GGLYL_os5av-xLikMVzyTIMGRVb4s130_head.
- NP314432.RAUsr3huXNzISoC2GGLYL_os5av-xLikMVzyTIMGRVb4s130_assertion wasGeneratedBy ECO_0000203 NP314432.RAUsr3huXNzISoC2GGLYL_os5av-xLikMVzyTIMGRVb4s130_provenance.
- NP314432.RAUsr3huXNzISoC2GGLYL_os5av-xLikMVzyTIMGRVb4s130_assertion wasDerivedFrom befree-20150227 NP314432.RAUsr3huXNzISoC2GGLYL_os5av-xLikMVzyTIMGRVb4s130_provenance.
- NP314432.RAUsr3huXNzISoC2GGLYL_os5av-xLikMVzyTIMGRVb4s130_assertion SIO_000772 23350639 NP314432.RAUsr3huXNzISoC2GGLYL_os5av-xLikMVzyTIMGRVb4s130_provenance.
- NP314432.RAUsr3huXNzISoC2GGLYL_os5av-xLikMVzyTIMGRVb4s130_assertion evidence source_evidence_literature NP314432.RAUsr3huXNzISoC2GGLYL_os5av-xLikMVzyTIMGRVb4s130_provenance.
- NP314432.RAUsr3huXNzISoC2GGLYL_os5av-xLikMVzyTIMGRVb4s130_assertion description "[Co-occurrence of a de novo SHANK2 mutation and a CHRNA7 duplication in two reported patients with ASD and ID as well as in the patient with t(11;17;19), severe ID and behavior problems suggests convergence of these genes on a common synaptic pathway.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP314432.RAUsr3huXNzISoC2GGLYL_os5av-xLikMVzyTIMGRVb4s130_provenance.