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Authored: Egan, SE, Orlic-Milacic, M, 2011-11-14, Edited: D'Eustachio, P, 2012-02-06, Edited: Orlic-Milacic, M, 2012-02-10, Reviewed: Haw, R, 2012-02-06, The NOTCH2 gene maps to human chromosome 1. NOTCH2 gene expression is differentially regulated during human B-cell development, with NOTCH2 transcripts appearing at late developmental stages. NOTCH2 mutations are a rare cause of Alagille syndrome. Alagille syndrome is a dominant multisystem disorder mainly characterized by hepatic bile duct abnormalities, and is predominantly caused by mutations in JAG1, a NOTCH2 ligand.
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NOTCH2 gene transcription
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