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

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2020
Materias:
Genome-Wide Studies
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7691802/
https://www.ncbi.nlm.nih.gov/pubmed/32303606
http://dx.doi.org/10.1136/jmedgenet-2019-106794
Descripción
Sumario:

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