Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP796661.RA11CKSWIQXWITM1XISdYhrXzAl71Cg5XmeDqsSKSq8ho130_assertion> ?p ?o ?g. }
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- NP796661.RA11CKSWIQXWITM1XISdYhrXzAl71Cg5XmeDqsSKSq8ho130_assertion type Assertion NP796661.RA11CKSWIQXWITM1XISdYhrXzAl71Cg5XmeDqsSKSq8ho130_head.
- NP796661.RA11CKSWIQXWITM1XISdYhrXzAl71Cg5XmeDqsSKSq8ho130_assertion wasGeneratedBy ECO_0000203 NP796661.RA11CKSWIQXWITM1XISdYhrXzAl71Cg5XmeDqsSKSq8ho130_provenance.
- NP796661.RA11CKSWIQXWITM1XISdYhrXzAl71Cg5XmeDqsSKSq8ho130_assertion wasDerivedFrom befree-20140225 NP796661.RA11CKSWIQXWITM1XISdYhrXzAl71Cg5XmeDqsSKSq8ho130_provenance.
- NP796661.RA11CKSWIQXWITM1XISdYhrXzAl71Cg5XmeDqsSKSq8ho130_assertion SIO_000772 22654670 NP796661.RA11CKSWIQXWITM1XISdYhrXzAl71Cg5XmeDqsSKSq8ho130_provenance.
- NP796661.RA11CKSWIQXWITM1XISdYhrXzAl71Cg5XmeDqsSKSq8ho130_assertion evidence source_evidence_literature NP796661.RA11CKSWIQXWITM1XISdYhrXzAl71Cg5XmeDqsSKSq8ho130_provenance.
- NP796661.RA11CKSWIQXWITM1XISdYhrXzAl71Cg5XmeDqsSKSq8ho130_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." NP796661.RA11CKSWIQXWITM1XISdYhrXzAl71Cg5XmeDqsSKSq8ho130_provenance.