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Na+‐taurocholate cotransporting polypeptide deficiency (NTCPD) is a newly described disorder arising from biallelic mutations of the SLC10A1 gene. As a result of a lack of compelling evidence from case‐control studies, its genotypic and phenotypic features remain open for in‐depth investigation. This study aimed to explore the genotypic and clinical phenotypic characteristics of paediatric patients...
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