Article
Low grade mosaicism in hereditary haemorrhagic telangiectasia identified by bidirectional whole genome sequencing reads through the 100,000 Genomes Project clinical diagnostic pipeline.
Journal of medical genetics - 1 Dec 2020
Clarke Jessica M, Alikian Mary, Xiao Sihao, Kasperaviciute Dalia, Thomas Ellen, Turbin Isobel, Olupona Kike, Cifra Elna, Curetean Emanuel, Ferguson Teena, Redhead Julian, Shovlin Claire L
Abstract excerpt
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Topics
- Endoglin
- Female
- Genetic Variation
- Humans
- Membrane Proteins
- Middle Aged
- Mosaicism
- Pathology, Molecular
- Telangiectasia, Hereditary Hemorrhagic
- Whole Genome Sequencing