Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP986496.RAAfrVviEEDbulCoi2viuI8kqsrBT1ldn61pfASGt1uBk130_assertion> ?p ?o ?g. }
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- NP986496.RAAfrVviEEDbulCoi2viuI8kqsrBT1ldn61pfASGt1uBk130_assertion type Assertion NP986496.RAAfrVviEEDbulCoi2viuI8kqsrBT1ldn61pfASGt1uBk130_head.
- NP986496.RAAfrVviEEDbulCoi2viuI8kqsrBT1ldn61pfASGt1uBk130_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." NP986496.RAAfrVviEEDbulCoi2viuI8kqsrBT1ldn61pfASGt1uBk130_provenance.
- NP986496.RAAfrVviEEDbulCoi2viuI8kqsrBT1ldn61pfASGt1uBk130_assertion evidence source_evidence_literature NP986496.RAAfrVviEEDbulCoi2viuI8kqsrBT1ldn61pfASGt1uBk130_provenance.
- NP986496.RAAfrVviEEDbulCoi2viuI8kqsrBT1ldn61pfASGt1uBk130_assertion SIO_000772 22654670 NP986496.RAAfrVviEEDbulCoi2viuI8kqsrBT1ldn61pfASGt1uBk130_provenance.
- NP986496.RAAfrVviEEDbulCoi2viuI8kqsrBT1ldn61pfASGt1uBk130_assertion wasDerivedFrom befree-2016 NP986496.RAAfrVviEEDbulCoi2viuI8kqsrBT1ldn61pfASGt1uBk130_provenance.
- NP986496.RAAfrVviEEDbulCoi2viuI8kqsrBT1ldn61pfASGt1uBk130_assertion wasGeneratedBy ECO_0000203 NP986496.RAAfrVviEEDbulCoi2viuI8kqsrBT1ldn61pfASGt1uBk130_provenance.