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The global prevalence and genetic spectrum of primary carnitine deficiency

Liu Sun1, Ke Yao2,3, Hang-Jing Wu4,5

  • 1Department of Computer Science, School of Engineering, Yuxi Normal University, Yuxi, 653100, China. sunliu@yxnu.edu.cn.

BMC Genomic Data
|July 7, 2025
PubMed
Abstract

Keywords:
Carrier frequencyGenetic prevalenceGenome aggregation database (gnomAD)Organic cation/Carnitine transporter 2 (OCTN2)Primary carnitine deficiency (PCD)Rare diseasesSolute carrier family 22 member 5 (SLC22A5)

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