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PedAM

Pediatric Disease Annotations & Medicines




Disease neutropenia
Phenotype C0268132|dpd deficiency
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PubMedID- 23481061 The allele dpyd*2a, a ivs14 + 1 g>a splice site transition that causes skipping of exon 14, has been found in up to 40 to 50 per cent of patients who developed grade 4 neutropenia, and was associated with dpd deficiency8.

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