Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP811517.RAkYoOISImQ6-34NloyV34yXWojywLnHOpYd-l7-5odxc130_assertion> ?p ?o ?g. }
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- NP811517.RAkYoOISImQ6-34NloyV34yXWojywLnHOpYd-l7-5odxc130_assertion type Assertion NP811517.RAkYoOISImQ6-34NloyV34yXWojywLnHOpYd-l7-5odxc130_head.
- NP811517.RAkYoOISImQ6-34NloyV34yXWojywLnHOpYd-l7-5odxc130_assertion description "[Comparison of the phenotypic features in a total of 19 patients with del(17)(p11.2p11.2) shows a consistent clinical phenotype with moderate to severe mental retardation, microbrachycelphaly, prominent forehead, broad face, flat midface, prognathism, short, broad hands, and behavioural anomalies such as self-mutilation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP811517.RAkYoOISImQ6-34NloyV34yXWojywLnHOpYd-l7-5odxc130_provenance.
- NP811517.RAkYoOISImQ6-34NloyV34yXWojywLnHOpYd-l7-5odxc130_assertion evidence source_evidence_literature NP811517.RAkYoOISImQ6-34NloyV34yXWojywLnHOpYd-l7-5odxc130_provenance.
- NP811517.RAkYoOISImQ6-34NloyV34yXWojywLnHOpYd-l7-5odxc130_assertion SIO_000772 3236351 NP811517.RAkYoOISImQ6-34NloyV34yXWojywLnHOpYd-l7-5odxc130_provenance.
- NP811517.RAkYoOISImQ6-34NloyV34yXWojywLnHOpYd-l7-5odxc130_assertion wasDerivedFrom befree-20140225 NP811517.RAkYoOISImQ6-34NloyV34yXWojywLnHOpYd-l7-5odxc130_provenance.
- NP811517.RAkYoOISImQ6-34NloyV34yXWojywLnHOpYd-l7-5odxc130_assertion wasGeneratedBy ECO_0000203 NP811517.RAkYoOISImQ6-34NloyV34yXWojywLnHOpYd-l7-5odxc130_provenance.