Identification and in-silico characterization of splice-site variants from a large cardiogenetic national registry.
Rayani K, Davies B, Cheung M, Comber D, Roberts JD, Tadros R, Green MS, Healey JS, Simpson CS, Sanatani S, Steinberg C, MacIntyre C, Angaran P, Duff H, Hamilton R, Arbour L, Leather R, Seifer C, Fournier A, Atallah J, Kimber S, Makanjee B, Alqarawi W, Cadrin-Tourigny J, Joza J, Gardner M, Talajic M, Bagnall RD, Krahn AD, Laksman ZWM.
Rayani K, et al. Among authors: duff h.
Eur J Hum Genet. 2023 May;31(5):512-520. doi: 10.1038/s41431-022-01193-9. Epub 2022 Sep 22.
Eur J Hum Genet. 2023.
PMID: 36138163
Free PMC article.