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Article

Intronic LINE-1 insertion in SLCO1B3 as a highly prevalent cause of rotor syndrome in East Asian population.

Journal of human genetics - 1 Feb 2022

Kim Young-Gon, Sung Hobin, Shin Ho Seob, Kim Man Jin, Lee Jee-Soo, Park Sung-Sup, Seong Moon-Woo

Abstract excerpt

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 had been reported to be highly prevalent in the Japanese population but there has been no additional report. In spite of its known association with various...

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PMID: 34354231
DOI: 10.1038/s10038-021-00967-1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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