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The HRH2 gene is located on chromosome 5q35.2 and is composed of 8 exons that generate two alternatively spliced mRNAs

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After the introduction of the New Generation Sequencing (NGS) technology [30], which relies on platforms for high-throughput, massively parallel sequencing that can analyse many genes at once, it was possible to identify the forms of PFIC, from PFIC1 to PFIC13 [4, 8, 11, 33,34,35,36,37]

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