Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP870335.RAEndQjdRXzonb5Kqo82jSUFB071B7mAl0P2cRiVQaCak130_assertion> ?p ?o ?g. }
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- NP870335.RAEndQjdRXzonb5Kqo82jSUFB071B7mAl0P2cRiVQaCak130_assertion type Assertion NP870335.RAEndQjdRXzonb5Kqo82jSUFB071B7mAl0P2cRiVQaCak130_head.
- NP870335.RAEndQjdRXzonb5Kqo82jSUFB071B7mAl0P2cRiVQaCak130_assertion description "[We report two children with interstitial deletions of 22q13 and two copies of SHANK3, but clinical features similar to the terminal 22q13 deletion syndrome, including mental retardation and severe speech delay.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP870335.RAEndQjdRXzonb5Kqo82jSUFB071B7mAl0P2cRiVQaCak130_provenance.
- NP870335.RAEndQjdRXzonb5Kqo82jSUFB071B7mAl0P2cRiVQaCak130_assertion evidence source_evidence_literature NP870335.RAEndQjdRXzonb5Kqo82jSUFB071B7mAl0P2cRiVQaCak130_provenance.
- NP870335.RAEndQjdRXzonb5Kqo82jSUFB071B7mAl0P2cRiVQaCak130_assertion SIO_000772 18523453 NP870335.RAEndQjdRXzonb5Kqo82jSUFB071B7mAl0P2cRiVQaCak130_provenance.
- NP870335.RAEndQjdRXzonb5Kqo82jSUFB071B7mAl0P2cRiVQaCak130_assertion wasDerivedFrom befree-20140225 NP870335.RAEndQjdRXzonb5Kqo82jSUFB071B7mAl0P2cRiVQaCak130_provenance.
- NP870335.RAEndQjdRXzonb5Kqo82jSUFB071B7mAl0P2cRiVQaCak130_assertion wasGeneratedBy ECO_0000203 NP870335.RAEndQjdRXzonb5Kqo82jSUFB071B7mAl0P2cRiVQaCak130_provenance.