Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP896986.RA7wet7Y-t_q183vkynaYxKlsjvDqUId4ukT5P2yaef4Q130_assertion> ?p ?o ?g. }
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- NP896986.RA7wet7Y-t_q183vkynaYxKlsjvDqUId4ukT5P2yaef4Q130_assertion type Assertion NP896986.RA7wet7Y-t_q183vkynaYxKlsjvDqUId4ukT5P2yaef4Q130_head.
- NP896986.RA7wet7Y-t_q183vkynaYxKlsjvDqUId4ukT5P2yaef4Q130_assertion wasGeneratedBy ECO_0000203 NP896986.RA7wet7Y-t_q183vkynaYxKlsjvDqUId4ukT5P2yaef4Q130_provenance.
- NP896986.RA7wet7Y-t_q183vkynaYxKlsjvDqUId4ukT5P2yaef4Q130_assertion wasDerivedFrom befree-2016 NP896986.RA7wet7Y-t_q183vkynaYxKlsjvDqUId4ukT5P2yaef4Q130_provenance.
- NP896986.RA7wet7Y-t_q183vkynaYxKlsjvDqUId4ukT5P2yaef4Q130_assertion SIO_000772 21615493 NP896986.RA7wet7Y-t_q183vkynaYxKlsjvDqUId4ukT5P2yaef4Q130_provenance.
- NP896986.RA7wet7Y-t_q183vkynaYxKlsjvDqUId4ukT5P2yaef4Q130_assertion evidence source_evidence_literature NP896986.RA7wet7Y-t_q183vkynaYxKlsjvDqUId4ukT5P2yaef4Q130_provenance.
- NP896986.RA7wet7Y-t_q183vkynaYxKlsjvDqUId4ukT5P2yaef4Q130_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." NP896986.RA7wet7Y-t_q183vkynaYxKlsjvDqUId4ukT5P2yaef4Q130_provenance.