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

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Dades bibliogràfiques
Publicat a:J Med Genet
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: BMJ Publishing Group 2020
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7691802/
https://ncbi.nlm.nih.gov/pubmed/32303606
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2019-106794
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