Clinical utility of an evolving cholestasis gene panel in 10,000 children and adults
Brett J. Hoskins, Tiziano Pramparo, Ethan Gough, Amy Ponte et autres
Objective Cholestasis has diverse causes, with genetic factors playing a key role. Diagnosis is challenging due to varied presentations and overlapping genetic conditions. Next-generation sequencing cholestasis gene panels enable faster, more accurate identification of genetic causes. This study summarizes results from more …
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