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Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome

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Description scientific article published on 03 March 2015
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author: Marcella Devoto  Christopher M Grochowski  Nancy B Spinner  Ramakrishnan Rajagopalan  David A Piccoli  Ian D Krantz  Alexandra M Falsey  Kathleen M Loomes 

Publication date March 3, 2015
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