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A single-center pilot study in Malaysia on the clinical utility of whole-exome sequencing for inborn errors of immunity

1 Jun 2021

Abstract excerpt

Primary immunodeficiency diseases refer to inborn errors of immunity (IEI) that affect the normal development and function of the immune system. The phenotypical and genetic heterogeneity of IEI have made their diagnosis challenging. Hence, whole-exome sequencing (WES) was employed in this pilot study to identify the genetic etiology of 30 pediatric patients clinically diagnosed with IEI. The potential causative...

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PMID: 34060650
DOI: 10.1111/cei.13626

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