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Background & Aims
In about 20% of children with cholestasis and normal or low serum gamma‐glutamyltransferase (GGT) activity, no aetiology is identified. We sought new genes implicated in paediatric hepatobiliary disease.
Methods
We conducted whole‐exome sequencing in 69 children evaluated at our centre from 2011 to 2018 who had low‐GGT cholestasis and in whom homozygous/compound heterozygous...
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