Suzanne de Bruijn (@suzannedebruijn.bsky.social)

🚨New paper alert🚨 After 40+ years of diagnostic uncertainty, we cracked the case! rdcu.be/eiLAg In an individual with Senior-Løken syndrome, traditional tests failed to identify a genetic cause. By combining #OGM and #LRS, we uncovered a hidden intronic mobile element insertion in IQCB1 (1/2).

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Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndrome npj Genomic Medicine - Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndrome https://rdcu.be/eiLAg

8 months ago