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Article

Real‐life Progression of the Use of a Genetic Panel in to Diagnose Neonatal Cholestasis

31 Mar 2022

Abstract excerpt

Objectives: The study aimed to construct an advanced gene panel to ascertain the genetic etiology of patients with neonatal/infantile intrahepatic cholestasis (NIIC), and test patients with NIIC in a clinical setting. Methods: From the group of NIIC patients, whom we had previously tested with our old 18‐gene panel from May 2013 to September 2017 but could not establish a definitive diagnosis, we included 191 in...

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PMID: 37168916
DOI: 10.1097/pg9.0000000000000196

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