Intronic LINE-1 insertion in SLCO1B3 as a highly prevalent cause of rotor syndrome in East Asian population.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of human genetics"
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
Clinically silent LINE 1 insertion in the PNPLA3 gene may impede genotyping of the p.I148M variant
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DOI: 10.1038/s41598-021-00425-0
Abstract: The patatin-like phospholipase domain containing 3 (PNPLA3) gene (viz. its I148M variant) is one of the key players in the pathogenesis of nonalcoholic fatty liver disease (NAFLD). We have identified a novel insertion/deletion variant of… read more here.
Keywords: insertion; pnpla3 gene; line insertion; i148m variant ... See more keywords