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Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases

Up to 350 million people worldwide suffer from a rare disease, and while the individual diseases are rare, in aggregate they represent a substantial challenge to global health systems. The majority of rare disorders are genetic in origin, with children under the age of five disproportionately affect...

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Foilsithe in:J Med Genet
Main Authors: Bick, David, Jones, Marilyn, Taylor, Stacie L, Taft, Ryan J, Belmont, John
Formáid: Artigo
Teanga:Inglês
Foilsithe: BMJ Publishing Group 2019
Ábhair:
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6929710/
https://ncbi.nlm.nih.gov/pubmed/31023718
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2019-106111
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