Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP253913.RAcjZRoN7mVqeAAh8fpieiJQ_A2AFzXfIfHVtUWxzC8AY130_assertion> ?p ?o ?g. }
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- NP253913.RAcjZRoN7mVqeAAh8fpieiJQ_A2AFzXfIfHVtUWxzC8AY130_assertion type Assertion NP253913.RAcjZRoN7mVqeAAh8fpieiJQ_A2AFzXfIfHVtUWxzC8AY130_head.
- NP253913.RAcjZRoN7mVqeAAh8fpieiJQ_A2AFzXfIfHVtUWxzC8AY130_assertion wasGeneratedBy ECO_0000203 NP253913.RAcjZRoN7mVqeAAh8fpieiJQ_A2AFzXfIfHVtUWxzC8AY130_provenance.
- NP253913.RAcjZRoN7mVqeAAh8fpieiJQ_A2AFzXfIfHVtUWxzC8AY130_assertion wasDerivedFrom befree-20150227 NP253913.RAcjZRoN7mVqeAAh8fpieiJQ_A2AFzXfIfHVtUWxzC8AY130_provenance.
- NP253913.RAcjZRoN7mVqeAAh8fpieiJQ_A2AFzXfIfHVtUWxzC8AY130_assertion SIO_000772 21615493 NP253913.RAcjZRoN7mVqeAAh8fpieiJQ_A2AFzXfIfHVtUWxzC8AY130_provenance.
- NP253913.RAcjZRoN7mVqeAAh8fpieiJQ_A2AFzXfIfHVtUWxzC8AY130_assertion evidence source_evidence_literature NP253913.RAcjZRoN7mVqeAAh8fpieiJQ_A2AFzXfIfHVtUWxzC8AY130_provenance.
- NP253913.RAcjZRoN7mVqeAAh8fpieiJQ_A2AFzXfIfHVtUWxzC8AY130_assertion description "[Among these variations, we found a splice site mutation in ASMT (IVS5+2T>C) and one stop mutation in MTNR1A (Y170X) - detected exclusively in patients with ADHD - for which biochemical analyses indicated that they abolish the activity of ASMT and MTNR1A.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP253913.RAcjZRoN7mVqeAAh8fpieiJQ_A2AFzXfIfHVtUWxzC8AY130_provenance.