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Whole exome sequencing in pediatric hyperammonemia: significant diagnostic yield and identification of three novel

Reza Hajati1,2, Fatemeh Hashemian2, Shadab Salehpour3

  • 1Hematopoietic Stem Cell Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

BMC Medical Genomics
|December 16, 2025
PubMed
Abstract

No abstract available in PubMed .

Keywords:
CPS1HyperammonemiaIEMMMUTNovel variantsWhole exome sequencing

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