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1 Ergebnisse
1
Low grade mosaicism in hereditary haemorrhagic telangiectas..:
Clarke, Jessica M
;
Alikian, Mary
;
Xiao, Sihao
...
Journal of Medical Genetics. 57 (2020) 12 - p. 859-862 , 2020
Link:
https://doi.org/10.1136/jmedgenet-2019-106794
RT Journal T1
Low grade mosaicism in hereditary haemorrhagic telangiectasia identified by bidirectional whole genome sequencing reads through the 100,000 Genomes Project clinical diagnostic pipeline
UL https://suche.suub.uni-bremen.de/peid=cr-10.1136_jmedgenet-2019-106794&Exemplar=1&LAN=DE A1 Clarke, Jessica M A1 Alikian, Mary A1 Xiao, Sihao A1 Kasperaviciute, Dalia A1 Thomas, Ellen A1 Turbin, Isobel A1 Olupona, Kike A1 Cifra, Elna A1 Curetean, Emanuel A1 Ferguson, Teena A1 Redhead, Julian A1 Shovlin, Claire L A1 The Genomics England Research Consortium PB BMJ YR 2020 SN 0022-2593 SN 1468-6244 JF Journal of Medical Genetics VO 57 IS 12 SP 859 OP 862 LK http://dx.doi.org/https://doi.org/10.1136/jmedgenet-2019-106794 DO https://doi.org/10.1136/jmedgenet-2019-106794 SF ELIB - SuUB Bremen
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