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Exome Sequence Analysis Identifies a Homozygous, Pathogenic, Frameshift Variant in the MAN2B1 Gene Underlying Clinical Variant of Α-Mannosidosis

Jamil Amjad Hashmi,Muhammad Latif,Reham M. Balahmar,Muhammad Zeeshan Ali,Fatima Alfadhli, Muzammil Ahmad Khan,Sulman Basit

FRONTIERS IN GENETICS（2024）

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关键词
metabolic disorder,alpha-mannosidosis,frameshift variant,developmental delay
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