Low grade mosaicism in hereditary haemorrhagic telangiectasia identified by bidirectional whole genome sequencing reads through the 100,000 Genomes Project clinical diagnostic pipeline.

Autor: Clarke, Jessica M., Alikian, Mary, Sihao Xiao, Kasperaviciute, Dalia, Thomas, Ellen, Turbin, Isobel, Olupona, Kike, Cifra, Elna, Curetean, Emanuel, Ferguson, Teena, Redhead, Julian, Shovlin, Claire L.
Zdroj: Journal of Medical Genetics; Dec2020, Vol. 57 Issue 12, p859-862, 4p
Databáze: Complementary Index