Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP488690.RAMI1aj8wDHZI3TuwRRqv1mDx_yCtOOGfcaZVQIR10Y5E130_assertion> ?p ?o ?g. }
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- NP488690.RAMI1aj8wDHZI3TuwRRqv1mDx_yCtOOGfcaZVQIR10Y5E130_assertion type Assertion NP488690.RAMI1aj8wDHZI3TuwRRqv1mDx_yCtOOGfcaZVQIR10Y5E130_head.
- NP488690.RAMI1aj8wDHZI3TuwRRqv1mDx_yCtOOGfcaZVQIR10Y5E130_assertion description "[A novel microduplication syndrome involving various-sized contiguous duplications in 17p13.3 has recently been described, suggesting that increased copy number of genes in 17p13.3, particularly PAFAH1B1, is associated with clinical features including facial dysmorphism, developmental delay, and autism spectrum disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP488690.RAMI1aj8wDHZI3TuwRRqv1mDx_yCtOOGfcaZVQIR10Y5E130_provenance.
- NP488690.RAMI1aj8wDHZI3TuwRRqv1mDx_yCtOOGfcaZVQIR10Y5E130_assertion evidence source_evidence_literature NP488690.RAMI1aj8wDHZI3TuwRRqv1mDx_yCtOOGfcaZVQIR10Y5E130_provenance.
- NP488690.RAMI1aj8wDHZI3TuwRRqv1mDx_yCtOOGfcaZVQIR10Y5E130_assertion SIO_000772 21901111 NP488690.RAMI1aj8wDHZI3TuwRRqv1mDx_yCtOOGfcaZVQIR10Y5E130_provenance.
- NP488690.RAMI1aj8wDHZI3TuwRRqv1mDx_yCtOOGfcaZVQIR10Y5E130_assertion wasDerivedFrom befree-20140225 NP488690.RAMI1aj8wDHZI3TuwRRqv1mDx_yCtOOGfcaZVQIR10Y5E130_provenance.
- NP488690.RAMI1aj8wDHZI3TuwRRqv1mDx_yCtOOGfcaZVQIR10Y5E130_assertion wasGeneratedBy ECO_0000203 NP488690.RAMI1aj8wDHZI3TuwRRqv1mDx_yCtOOGfcaZVQIR10Y5E130_provenance.