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Large-scale study finds genetic causes for 41% of rare pediatric diseases

18 Apr, 2023 | 13:25h | UTC

Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland – New England Journal of Medicine (free for a limited period)

News Release: 5,500 people diagnosed with rare genetic diseases in major research study – University of Exeter

Commentary: Study endeavors to strengthen genomic diagnosis of rare pediatric diseases in the United Kingdom and Ireland – News Medical

 

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