Matches in Nanopublications for { ?s ?p "[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."@en ?g. }
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- 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.