☆ 4.5 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 (2020)

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Journal

JOURNAL OF MEDICAL GENETICS
Volume 57, Issue 12, Pages 859-862

Publisher

BMJ PUBLISHING GROUP
DOI: 10.1136/jmedgenet-2019-106794

Keywords

molecular genetics

Categories

Genetics & Heredity

Funding

  1. National Institute for Health Research (NIHR)
  2. National Health Service (NHS) England
  3. Wellcome Trust
  4. Cancer Research UK
  5. Medical Research Council
  6. NHS England
  7. Imperial College Healthcare NHS Trust
  8. NIHR Imperial Biomedical Research Centre

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