Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1216766.RAdtXmUiljdNqGEgIBMpC3jfzmV66hePBPav_DFJhXMZo130_assertion> ?p ?o ?g. }
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- NP1216766.RAdtXmUiljdNqGEgIBMpC3jfzmV66hePBPav_DFJhXMZo130_assertion type Assertion NP1216766.RAdtXmUiljdNqGEgIBMpC3jfzmV66hePBPav_DFJhXMZo130_head.
- NP1216766.RAdtXmUiljdNqGEgIBMpC3jfzmV66hePBPav_DFJhXMZo130_assertion description "[Copy-number variants and truncating mutations in SHANK genes were present in ?1% of patients with ASD: mutations in SHANK1 were rare (0.04%) and present in males with normal IQ and autism; mutations in SHANK2 were present in 0.17% of patients with ASD and mild intellectual disability; mutations in SHANK3 were present in 0.69% of patients with ASD and up to 2.12% of the cases with moderate to profound intellectual disability.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1216766.RAdtXmUiljdNqGEgIBMpC3jfzmV66hePBPav_DFJhXMZo130_provenance.
- NP1216766.RAdtXmUiljdNqGEgIBMpC3jfzmV66hePBPav_DFJhXMZo130_assertion evidence source_evidence_literature NP1216766.RAdtXmUiljdNqGEgIBMpC3jfzmV66hePBPav_DFJhXMZo130_provenance.
- NP1216766.RAdtXmUiljdNqGEgIBMpC3jfzmV66hePBPav_DFJhXMZo130_assertion SIO_000772 25188300 NP1216766.RAdtXmUiljdNqGEgIBMpC3jfzmV66hePBPav_DFJhXMZo130_provenance.
- NP1216766.RAdtXmUiljdNqGEgIBMpC3jfzmV66hePBPav_DFJhXMZo130_assertion wasDerivedFrom befree-2016 NP1216766.RAdtXmUiljdNqGEgIBMpC3jfzmV66hePBPav_DFJhXMZo130_provenance.
- NP1216766.RAdtXmUiljdNqGEgIBMpC3jfzmV66hePBPav_DFJhXMZo130_assertion wasGeneratedBy ECO_0000203 NP1216766.RAdtXmUiljdNqGEgIBMpC3jfzmV66hePBPav_DFJhXMZo130_provenance.