Intronic LINE-1 insertion in SLCO1B3 as a highly prevalent cause of rotor syndrome in East Asian population.
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DOI: 10.1038/s10038-021-00967-1
Abstract: Rotor syndrome is caused by digenic loss-of-function variants in SLCO1B1 and SLCO1B3 but only a few studies have reported co-occurring inactivating variants from both genes. A rotor syndrome-causing long interspersed element-1 (LINE-1) insertion in SLCO1B3… read more here.
Keywords: sequence; line insertion; rotor syndrome; line ... See more keywords