Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP852264.RAezih3YM-tJV7WA1F0YL73AwiE6s1Jed37dJRUngYGss130_assertion> ?p ?o ?g. }
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- NP852264.RAezih3YM-tJV7WA1F0YL73AwiE6s1Jed37dJRUngYGss130_assertion type Assertion NP852264.RAezih3YM-tJV7WA1F0YL73AwiE6s1Jed37dJRUngYGss130_head.
- NP852264.RAezih3YM-tJV7WA1F0YL73AwiE6s1Jed37dJRUngYGss130_assertion description "[Smith-Magenis syndrome (SMS), manifesting obesity and hypercholesterolemia, results from a deletion CNV at 17p11.2, but is sometimes due to haploinsufficiency of a single gene, RAI1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP852264.RAezih3YM-tJV7WA1F0YL73AwiE6s1Jed37dJRUngYGss130_provenance.
- NP852264.RAezih3YM-tJV7WA1F0YL73AwiE6s1Jed37dJRUngYGss130_assertion evidence source_evidence_literature NP852264.RAezih3YM-tJV7WA1F0YL73AwiE6s1Jed37dJRUngYGss130_provenance.
- NP852264.RAezih3YM-tJV7WA1F0YL73AwiE6s1Jed37dJRUngYGss130_assertion SIO_000772 22654670 NP852264.RAezih3YM-tJV7WA1F0YL73AwiE6s1Jed37dJRUngYGss130_provenance.
- NP852264.RAezih3YM-tJV7WA1F0YL73AwiE6s1Jed37dJRUngYGss130_assertion wasDerivedFrom befree-20150227 NP852264.RAezih3YM-tJV7WA1F0YL73AwiE6s1Jed37dJRUngYGss130_provenance.
- NP852264.RAezih3YM-tJV7WA1F0YL73AwiE6s1Jed37dJRUngYGss130_assertion wasGeneratedBy ECO_0000203 NP852264.RAezih3YM-tJV7WA1F0YL73AwiE6s1Jed37dJRUngYGss130_provenance.