Low grade mosaicism in hereditary haemorrhagic telangiectasia identified by bidirectional whole genome sequencing reads through the 100,000 Genomes Project clinical diagnostic pipeline.
Jessica M ClarkeMary AlikianSihao XiaoDalia KasperaviciuteEllen ThomasIsobel TurbinKike OluponaElna CifraEmanuel CureteanTeena FergusonJulian Redheadnull nullClaire L ShovlinPublished in: Journal of medical genetics (2020)
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