Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP475643.RAczKIR30VnqklUc2D450ZNGxXZIF8rHeIn88uP8HBOdk130_assertion> ?p ?o ?g. }
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- NP475643.RAczKIR30VnqklUc2D450ZNGxXZIF8rHeIn88uP8HBOdk130_assertion type Assertion NP475643.RAczKIR30VnqklUc2D450ZNGxXZIF8rHeIn88uP8HBOdk130_head.
- NP475643.RAczKIR30VnqklUc2D450ZNGxXZIF8rHeIn88uP8HBOdk130_assertion description "[Harlequin ichthyosis (HI), which is the most severe genodermatosis, is caused by loss-of-function mutations in ABCA12, a member of the ATP-binding cassette transporter family.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP475643.RAczKIR30VnqklUc2D450ZNGxXZIF8rHeIn88uP8HBOdk130_provenance.
- NP475643.RAczKIR30VnqklUc2D450ZNGxXZIF8rHeIn88uP8HBOdk130_assertion evidence source_evidence_literature NP475643.RAczKIR30VnqklUc2D450ZNGxXZIF8rHeIn88uP8HBOdk130_provenance.
- NP475643.RAczKIR30VnqklUc2D450ZNGxXZIF8rHeIn88uP8HBOdk130_assertion SIO_000772 18632686 NP475643.RAczKIR30VnqklUc2D450ZNGxXZIF8rHeIn88uP8HBOdk130_provenance.
- NP475643.RAczKIR30VnqklUc2D450ZNGxXZIF8rHeIn88uP8HBOdk130_assertion wasDerivedFrom befree-20140225 NP475643.RAczKIR30VnqklUc2D450ZNGxXZIF8rHeIn88uP8HBOdk130_provenance.
- NP475643.RAczKIR30VnqklUc2D450ZNGxXZIF8rHeIn88uP8HBOdk130_assertion wasGeneratedBy ECO_0000203 NP475643.RAczKIR30VnqklUc2D450ZNGxXZIF8rHeIn88uP8HBOdk130_provenance.