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Updated: Sep 18, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Carrier Frequency and Prevalence of Citrin Deficiency in East Asians and Koreans Based on Comprehensive Analysis of

Mi-Ae Jang1, Won Young Heo1,2, Jong Kwon Lee1

  • 1Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

Annals of Laboratory Medicine
|June 24, 2025
PubMed
Abstract

Keywords:
Carrier stateCitrullinemiaEast AsianGenetic carrier screeningGenetic counselingIntrahepatic cholestasisPrevalence

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