Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP616728.RAWKs9n8nyNtDAcJwn5mT8D6jvS-eaW5Kz3eyHHoaeueY130_assertion> ?p ?o ?g. }
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- NP616728.RAWKs9n8nyNtDAcJwn5mT8D6jvS-eaW5Kz3eyHHoaeueY130_assertion type Assertion NP616728.RAWKs9n8nyNtDAcJwn5mT8D6jvS-eaW5Kz3eyHHoaeueY130_head.
- NP616728.RAWKs9n8nyNtDAcJwn5mT8D6jvS-eaW5Kz3eyHHoaeueY130_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." NP616728.RAWKs9n8nyNtDAcJwn5mT8D6jvS-eaW5Kz3eyHHoaeueY130_provenance.
- NP616728.RAWKs9n8nyNtDAcJwn5mT8D6jvS-eaW5Kz3eyHHoaeueY130_assertion evidence source_evidence_literature NP616728.RAWKs9n8nyNtDAcJwn5mT8D6jvS-eaW5Kz3eyHHoaeueY130_provenance.
- NP616728.RAWKs9n8nyNtDAcJwn5mT8D6jvS-eaW5Kz3eyHHoaeueY130_assertion SIO_000772 22654670 NP616728.RAWKs9n8nyNtDAcJwn5mT8D6jvS-eaW5Kz3eyHHoaeueY130_provenance.
- NP616728.RAWKs9n8nyNtDAcJwn5mT8D6jvS-eaW5Kz3eyHHoaeueY130_assertion wasDerivedFrom befree-20140225 NP616728.RAWKs9n8nyNtDAcJwn5mT8D6jvS-eaW5Kz3eyHHoaeueY130_provenance.
- NP616728.RAWKs9n8nyNtDAcJwn5mT8D6jvS-eaW5Kz3eyHHoaeueY130_assertion wasGeneratedBy ECO_0000203 NP616728.RAWKs9n8nyNtDAcJwn5mT8D6jvS-eaW5Kz3eyHHoaeueY130_provenance.