Varaico: Literature-Extracted Genetic Variants

Gene:MAN1B1
Variant:p.Q475*
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MAN1B1

NM_016219.5:p.Q475*

Associated Papers

The First Korean Case of MAN1B1-Congenital Disorder of Glycosylation Diagnosed Using Whole-Exome Sequencing and Matrix-Assisted Laser Desorption Ionization Time-of-Flight Mass Spectrometry.

Kim KB et al.

Annals of Laboratory Medicine, 2025

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